GeneBe

MFF-DT

MFF divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:227221052-227325711

Links

ENSG00000236432 ∙ NCBI:654841 ∙ ∙ HGNC:41067 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MFF-DT gene.

  • not provided (1546 variants)
  • Autosomal recessive Alport syndrome (305 variants)
  • Alport syndrome (285 variants)
  • Autosomal dominant Alport syndrome (161 variants)
  • not specified (103 variants)
  • Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome;Benign familial hematuria (95 variants)
  • Inborn genetic diseases (42 variants)
  • Benign familial hematuria;Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome (39 variants)
  • COL4A3-related condition (32 variants)
  • Autosomal dominant Alport syndrome;Benign familial hematuria;Autosomal recessive Alport syndrome (15 variants)
  • Benign familial hematuria (12 variants)
  • Kidney disorder (10 variants)
  • Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome (8 variants)
  • Focal segmental glomerulosclerosis (5 variants)
  • Autosomal dominant Alport syndrome;Benign familial hematuria (5 variants)
  • Alport syndrome 3B, autosomal recessive (4 variants)
  • Autosomal recessive Alport syndrome;Autosomal dominant Alport syndrome;Benign familial hematuria (4 variants)
  • Hematuria (4 variants)
  • Hearing impairment (4 variants)
  • Atypical hemolytic-uremic syndrome (4 variants)
  • COL4A3-Related Disorders (3 variants)
  • Chronic kidney disease (3 variants)
  • - (3 variants)
  • Autosomal recessive Alport syndrome;Autosomal dominant Alport syndrome (2 variants)
  • Nephrotic syndrome (2 variants)
  • Steroid-resistant nephrotic syndrome (1 variants)
  • Hereditary hearing loss and deafness (1 variants)
  • Proteinuria;Moderate albuminuria;Microscopic hematuria (1 variants)
  • See cases (1 variants)
  • Stickler syndrome (1 variants)
  • Hereditary disease (1 variants)
  • Microscopic hematuria (1 variants)
  • Glomerulopathy;Hematuria (1 variants)
  • focal and segmental glomerulosclerosis (1 variants)
  • Macroscopic hematuria (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFF-DT gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
2
clinvar
 2
splice region
0
non coding
152
clinvar
333
clinvar
435
clinvar
840
clinvar
170
clinvar
 1930
Total 152 333 435 840 172

Highest pathogenic variant AF is 0.0000527

Variants in MFF-DT

This is a list of pathogenic ClinVar variants found in the MFF-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-227231988-CTTCTACTCTTTATGTCCCTGAGTTCAGTTGATTTGATTTTTAGATCCCACACATAAGTGAGAATATACAATGTTTGTCTTTCTGTACCTGGCTTATTTCATTTAACATAGTGATCTCCAGTTCCATCCATGTCGTTGCAAATGACTTGATCTCCTTCTTTTTTGTGGCTGCATAGTACTCCATTGTGTATATGTACCACATTTCCTTTATCCATTCGTCTGTTGATGGACACGTAGATTGCTTCCAAATCTTAGCTATAGTATACTCTGGTTTCTCTTCAGATTGCATAAATCTTTCACCTTTTACCAAATCTTAGCTATTGTAAACAGTGCTACAACAAACATGGGAGTGCAGATATCTCTTTGATACACTGATTTCCTTTCTTTTGAATAGATACCCAATAGTGGGATTGCTGGATCATATGGTAGTGCAATTTTTAGTTTTTTGAGGAACCTCCACACAGTTCTCCATGGTGGTTGTACTAATTTACATTCCCACAAACAGTGTACAAGGGTCCCCTTTTCTCTACTTCCTTTCCAGCATTTGTTATTGACTGTCATTTGGATATAAGCCATTTTAACTGGGGTGAGATGATATCTCGGTGTAGTTTTGATTTGAATTTCTCTGATGATCAATGATTTTGAGCACCTTTTCATATGCCTGTTTGCTATCTGTATGTCTTCTTTTGAGAAATGTCTATTCAAATCTTTTGCCCATTTTTTGACCAGATGGTTTTAAATTAGCCATTTCACTCTAATTCCTGATGGTTGAAATTACTATTTTAACGAAGTAATTTAATTAAATATTAAATAAATAAGTGATTAAATATGAATGCATAAAAAGACATTTGTTTATGTAAAAATAAGGTTGAAAGATTTGATAAAATGAAATTAAGAGAAAAACTATTCAATTACATGTGGCTGAGCTAGCACTTAAAGAGTTAGAGAAAAATATGGATTAATATCCAGAAGGACTCTATAGTCAGATTGTTCCACAAGCATCTTTTATATTTTTTATTGTATTTATTTACTTTTTATGTTTTTGAGACAGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTAACTACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGAGGTTACAGGCATGCACCACCAAACCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTCACGTTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCCAGTGATCCACCAGCCACTGCCTCCCAAAGTGCTGGGATTACAGAAGTGAGCCACCATGCCTGGCCCCTACAAGCAATTGGCCTGTTAAAAAAAAAAAATTCTAAAACTGGAATTTGTTGATGGTGCACTGTGGGTGTGATTTAGCAGGAATGATGCCACTGAACTCTAAACAGCAGACCCATTCCCAAAGGAACAACCTGGACCCTGTCTCACTAGATTACAGAATTTGTGAACATCTATATATTTGAAGTTAACTAGTGTTCATGTTTCTGTTTGTTTGTTTTTGACTCTTCAACTTTTTCAATTAACTAATAAGCTGGTACTCAGCTATCATATAGAAATTCTACCTTAATGTGCAAACAAACCAAATACAACAAAAACTAAATATTTTACCACTAAAAGTTCAAGACCCAAACTAAGGGACAATATCAAAAAGAAAAAATCAAGAACTGTGATTTTGATGACAATAAAGGAGGCACCTCATGGCGGCAGGTGGTGATGGGAAAGCAGACACCAGGCAGGGAGGACTCACGGGAACAGCACGCTCACATCAGAGCCTCTCACCCGACTGCTAAGCACCCAGGCGGGTCCTATGGATTCTTGCAACTGTGATAGCCACTTGTTGACATCAGGCCTCAGGTGTTCTTGGGGGTGAAAGCACTGACAAAATCTCTGGCATAAAATGATGGATTTGCTAAAAATCAAACAGTTTTTCATTTTCTATGGTCATTGAGGACCTTGTATAAGGCTGAAGATCTAATTTAAAAACTGGTATCCTGAAGTTACTGTATCAACATTGATTTCTTAGTTTTGGGGATAAGGGTTGTAATTGGATGGGGGAGAGGCATACAGAAGTATCTGGGGTACAGTGTCATGTTGCGTGCAGTCTACTTTTGAATGATTTGGGGGAAAGTGGTGTATGTGTATGTGGAGAGAGAGAAAGAGAGAAGGAGAGACAGACAGAGAGATGGAGTAGGTGGGACAACTTAACAGTTGGTGAACTTAGATGGGAGGAGACACCAGTGTTTCCGGTACTGTTTGTCAGCTCTTCTGAGGGTTGGGTTTAAACTTTTTCCAAAAGAATTTCTTTTAATCCAAGCAACTAATAAATAATTAGGCTTGTGTTAATTTTAACGTGTGTTAAAATAGCCAAAGCCTCTGGTTCCATTTTTTGCCATTTTGATCATAGTTGTTCATAATTCATACATACAGAAAATATCTGCATCATGGCACCCCATCAAATAGCCATGCAATTCATAAGCCTTCAAATTGGATGCAAATAAACCAGCTGTCCATCCACTGATTCATCCAGTCAATCCATAAACACTTGTTTACGACATCTTATATGCCAAAGATACCAGTGTGACTATGACTGCACAATTCCTTCTCTCCTGGGACAAACAGTCATCAGAAAAAAATAGGCATTGAATATCTAACTGCAGAGGCTCAATGGGAGTGTATAGGCAAAGGGGACCAGTCTAGTCTGGAGAAGATCAACAAACACTTGCTTAAGCTAAGACCGAAAGATTTCCAGTAGCATATGGTGAATGTGACTCTTACTCCAAGAAATAAAATTAAGCCTGTCTCAAGGCCCCCACACCTTCTCACAGGTTAGAGAATTGCCAATCTGCTCTTCTTCCCTCTAGCCCTAGAGGCTCAGAATCCAGGTGTTGTGTGGCATCTGGGAGGCAGAAGAATCAGAGGTGATCATTGCCCATTTGAAAACAGTGGCCGGCTTCCTCCGTGCACACTTGAGCCCAAGGTCCATGCCCAGGTTAAGCTTCCTTACCCAGTATCTTGTACCCTTGGGTGAAGGACTCAGGCTTTCCTTTCGGAGGCCCTGCTGCCTCTTCCAGATGCTGTGAGGGAGTAGCATGCTCGGGGGTGGGAGGGGGCACTGAGGACTTGCATTTCTGAGGACTTGCATTTCTGAGGACTTGCATTTCTGACAAGTCTCCAGGAGATGCTGCCGTCTGGGAATCCACACTTTGAGTTTTAGTAGAGTATACTTAAAAGATGTGGTTGAAAAGAGCATTAAAGTTTAAAAACCCAGAAAGACAAGATTAAAATCATTTAGTCAAGACATGACTTCATGATCCCAAATATCTGGGAGGAAAATTGCAATGAGTTAGTCTTCTAGAAATAAGAAATATGCAACTTTGAGGAGACTATAGAATTTCCTTCTCAGTCGGTTACTTTCTCTTCATTTATTTCAATAGGTTATTGGGGAACAGGTGGTGTTTGGTTACATGGATAAGTTCTTTAGTGGTGATTTCTGAGATTTTGATGCACCCATCACCCAAACAGTGTACACTGTACCCAGTGTGTGGTCTTTAATCCCTCACCCCCTTTTACACTTCCCCCAAAGTCCATTGTATCATTCTTATGCCTTTGTGTACTTATAGCTTAGTTCCCACTGCTAAGTGAGAATATGCGACGTTTAGTTTTCTATTCCTGAGTTACTTCACTTAGAATAATGGTCTCCAATTCCATCCAGGTTGCTGCTAATGCCATTATTTCATTCCTTTTTTTTTTTTTTTTTTTTAATGGAGTTTTGCTCTTGTCACCCAGGCTTGAGTGCAATGGCGCAATCTCGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCGATTCACCTGCCTCAGCTTCCCGAGTAGCTGAGATTACAGATGCCCGCCACCACATCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCCCCTGGGCCTCGCAAAGTGCTGGGATTGCAGGCGTGAGCCCCCGTGCCCAGCCTATTTCATTCCTTTTTATGGCTGAGTAGCATTCCATGGTATATATACCACATTGTCTTTATCCACTCATTGATTGATGGGCATCTGGGCTGGTTCCAGATTTTTGCAATTGCGAATAGTCCTGTTATAAATATGAGTGTGCAAGTGTATTTTTCGTATAATGACTTATTTTCCTCTGGGTAGATACCCAGTAGTTACTTTCCATTCCTATAAACTGCAGTGTATATGAACATGATGAGTGTCAAATGATGAATGCCTCAAAATTACTGTGTGCTCCCTTCCTGGAATGACAGCAAGGCCTACTGCCCAAGACTAAGGAAAGATATTCAGTTAAAGATACTCTTGTTTGTGTGGGTTTTTTTGTTTTGGTTGCATAAGTAGAATTCTCCACCTTAGGAATATCTAGCATTTCTTTTTTTATTTTCCCTACTAACCATCCAGTATATCTCCTAGATTTGCCTGGCCTCTGCCATCAACATATTTTCTGGAGAAAGCAAATTAATTTTCAGTTAATATTAACCTGAAGAAAAAATAATAAAGCAAAGGATTAATATGTAACCATATAATATGCAGCATATATGTCAAAACACATTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGAATTACAGGAGCCCACCACCACACCCAGCTGATTTTTATATTTTTTAGTTGAGATGGGGTTTCATCAGGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAAGTGACCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGTGCCCAGCCAAAACACATTTTAAGTCTATTATTTGAAACTATTTCTTTATTTGTTCCTCTGCTGGCAGAGAAAAGTTTTAAAAATTTGATGTCCATTGGAGCTGGAATGTGCATAGGTGTGAGGGCTGGGGGGTAAGTGTGTCACAGTGACTAGTTAGGTAGGATAAGGTATGTCTAACTCACAGCTGAATTTTTTGTTTTGGTTTTGGTTTTATAAGAAAGAACATTCTGTTGTTCAAAATATTTGAGAATAAAAAAAGAAAGAACATTCTGATACTAGCATTAATGAGTTAGTTTGTTCTCTTTAAAGATGTGTAATGGGTATTGATCCTCTTCCCAGTCTTAAACATTATTTAAGTCAAAGAAAACCTTAATATCACCTATGGAATATATTGCATATTAATCTACACAAATATATATAAGGTTGGTGCAAAAGTTATTGTGGCTTTTGCCATTGAAAGTAATGGCAAAAAAATTGTCCAAGTAATGGCACTAACCAAATACATTGTGTTCTACATAAAAGGTACATATACATGTATACATTATACATATATACACATACACATATATGAACATTATGTAGAACCTAAGAATTTGCCAGTATTTGACCACTTTTTAACTATGACAGCAGCAATTTCTTATGATTCAATTAGATATTATCCTGAAAAAAAGGATAGCTTTGTCGTTTCCATATATAAATTATTAGGTTGGTACAAAGGTAATTAAAAGTAATGGCAAAAACGGCCATTACTTTAACACTTAAAATTCCCAAGTACAATACAAATGATGTATTCTTATCCGACATTTCTCCCTTATGCAACATGTTCTCAGTTTTCTACTTTATTGCTATTCATATATTGATATATTTCTATTGATATATTGCTACAAGGTCACCTGGCTCCTAACAGATAGTGTCCAATACTCGAAGAACAGAGAAATGCATTTGCTTTTACCCTGCCGGTTGGGATTTATTCAGCTGTTTCTAAACAAAACCCTTTCTCTTTCCCTCTTCCTAGGGTTGTGTCTGTAAAGACAAAGGCCAGTGCTTCTGTGACGGGGCCAAAGGGGAGAAGGTAAAAACAAACCCTAATACTGCTTGTTTACACTGTAAAGCTCTAGAAGGTAAAACTCAACCTTCTTCTTTCATCGGTAGCAGAAAGATCCGCAGTATGTTGTTCCATTTCCCAAATCCAATGTTAAAGTAATTGTATATAAACATTAACCTAAAAAAAAAAAAAGAAAAAAGTCATCTAGGAAGCTTCAGATACCTTGTATATACAATGGCAATTAAATTACAACTCTCTCGGTCTGTAAAGAATAAGTAGCAAATGAGAAAAAGAAAAAGAAAGTTTATGACAAGTCTCCATATGTATACACTATTTACAATGTTGCTAAACACAAGAGAAGAACTGAAAACGATTTGATTCATTCACTTTGACAGAAAATAAACATTGAAATTCACAGATTTTTGTCCTGCAGCATTGGTTCAAGTTCGCCCCCTGGTGGAGAAATCCCACAGCAGCACACTGGTTGAGGCAAAACTTAGCAGAGGGAAGTAGCTCCATTGCAGAATTCAAGAAAAAAAGGAATGCCGTGAAATCTCATTAATTCGCTCCATTAACTTGCAATTTGTGATAATTAAGATAGAGGCAGAACTAAAGTTTTTTTCTTTGTTTACCAAACCCTTTCCTCAGAGACACTAATTAATTGTTTAACAACATTGAAGGATGACTATTTTAAAATATTTTAAGAACATATTTAAGCTCTTTATCTAAACTAATTTCTATATAATGTGTATGCTAATTATAATAATTATACTTATTTTAAATTATTTCATAATTCACATGTAGTTGGATTTAGGTTTTTTCTTGAATCTGTGAATGTATTCTAATTCAGGTTCCCATTGAGAAGCACTTTCTCTGTGATTCTCCTTGCATTCAAGAAGCATTTATTGAGTTTCTATTATTTGCAAGATGCTACTGTAGGGTGTATAAAAGTAACTGAGTAGCGAGAGGGGTCTAGCACATTCTTTTATTTCTCTTCTTGTTGAGTGTGTGTGCACACACACAATGTAAAATAGCTGACTTGTTCTTTTTTGTTTTAATTTGCCAATTGTGTAACTAAATTGACCCAATTAACCAAATCAGCCGGTGGCCTTTACTGTTGAAGAGTACAGTCGGCCCTCCTTATCCACGGTTTCTGAATCCTCAGAATCAACCAATGGCATACTGAAAATACTTCGGGGAGGGGGGGATATAATAAAAAATAATACAACAATTAAAGATAATACAAATAAAAAAATGCAGTATAACAACCATTTGCAAAGCATTTGCATTGTATTAGGTATTATAAGTCACCTAGAGATTTAAGGTATATGGAAGGATGTTCTAGGTTATATGCAAATACGATGCCATTTTGTATAAGGGACTTAAGAATCCACAGGTTTTCGTGTGGGGGGAAGGTCCTGGAACCAATCCCCCACCGACACTGAGGGACAAACGTAATTCCAAGATACAAATCCATGGAAAAATTATTTGTTGGTAGAACTGTGTCAAGCCTTGGGCTTAAAGTACTTTCACTCACTTTTACTAGGTACTTTCCCCTAATATTATCTGACTCCTTCTAGAACATTACTGAGCTCACACCTTTTTGGTTATGCCACCCTTGCTACCTTTCCTGCATCTCCTACACAAATAACAGATTAAATTACTAACTCCTGTGTATTAAAGAAAGGGCTCAGACTCATAACCTGCCTGGTGGCGTTCTTTCAAGCTACATAGTAATTATGCACACTCCCCAGGCACCTTCTTGCACCTGACCCTCACTGTCTCTCCATCCCACAACAAACACTCCACTAACCTTGATGCTTCTACCTGGGCTTTCCCTTTCATTTTTTATTCCGTCTCCCTTAAGCTCTGCTCTACATAGCCCTACCATTTGGGAGAAAGTCAAGTTTCTACAAGACCAAGAGCCACCACTTTCAAGCCTATAGACAAATACTAACAACTGGTAGCTTTCTGGTTGCCTATGTAGTCACTCCTGAGTGCTAATTATGATTTTTTTAATCCAAGGAAAAAACATGCAAAGAGTCACCATGAAGTCATAAACAAGAGAACATAATGGTTATTGGTGTGTTTATTGTGGGATAGTTGCTGCTCTGTGTGTTTCTCACCTCGTTTTGGTTTTAACAGGGGGAGAAGGGCTTTCCTGGACCCCCCGGTTCTCCTGGCCAGAAAGGA-C Likely pathogenic (Dec 27, 2019)857806
2-227237940-AAAACCCTTT-A Likely benign (May 14, 2023)3023863
2-227237949-T-G Likely benign (Jan 11, 2024)2778966
2-227237950-C-G Likely benign (Jan 31, 2024)2141413
2-227237950-C-T Likely benign (Aug 25, 2023)2869435
2-227237958-C-G Likely benign (Sep 12, 2022)1554577
2-227237964-C-T not specified • Alport syndrome • Focal segmental glomerulosclerosis Benign (Feb 01, 2024)255008
2-227237968-G-C Likely pathogenic (Sep 16, 2018)562460
2-227237970-T-C Likely benign (Nov 14, 2023)1153671
2-227237970-TTG-T Autosomal recessive Alport syndrome Likely pathogenic (Apr 29, 2022)1725980
2-227237970-T-TTGTG Alport syndrome • Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome;Benign familial hematuria Pathogenic (Aug 24, 2023)1075091
2-227237976-C-T Likely benign (Nov 01, 2022)1906392
2-227237979-T-C Likely benign (Jan 17, 2023)2829490
2-227237992-C-G Alport syndrome • Autosomal dominant Alport syndrome • Inborn genetic diseases • COL4A3-related disorder Conflicting classifications of pathogenicity (Jan 22, 2024)334753
2-227238000-C-T Likely benign (Sep 09, 2023)3002050
2-227238003-TG-AA Autosomal dominant Alport syndrome Likely pathogenic (Jun 02, 2023)3066088
2-227238006-C-T Likely benign (Jan 21, 2024)1122365
2-227238007-G-A Benign (Dec 22, 2023)2963194
2-227238007-G-C not specified • Alport syndrome • Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome • Autosomal recessive Alport syndrome • Autosomal dominant Alport syndrome Benign (Jul 15, 2024)254978
2-227238007-GGG-CGA not specified Likely benign (Mar 28, 2024)3233713
2-227238013-A-T Pathogenic (Oct 04, 2023)2765083
2-227238015-A-G Likely benign (Dec 09, 2023)1633274
2-227238016-G-A Autosomal dominant Alport syndrome • Inborn genetic diseases • COL4A3-related disorder Conflicting classifications of pathogenicity (Jan 27, 2024)684144
2-227238018-G-C Likely benign (Jun 18, 2022)1109681
2-227238020-A-G Likely benign (Sep 08, 2023)2158406

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP