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 (138 variants)
  • Autosomal dominant Alport syndrome (24 variants)
  • Autosomal recessive Alport syndrome (21 variants)
  • Alport syndrome (15 variants)
  • Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive;Autosomal dominant Alport syndrome (11 variants)
  • Alport syndrome 3b, autosomal recessive (5 variants)
  • COL4A3-related disorder (3 variants)
  • Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2;Autosomal dominant Alport syndrome (3 variants)
  • Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome;Benign familial hematuria (3 variants)
  • Autosomal dominant Alport syndrome;Benign familial hematuria;Autosomal recessive Alport syndrome (2 variants)
  • Inborn genetic diseases (2 variants)
  • Benign familial hematuria (2 variants)
  • Autosomal dominant Alport syndrome;Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2 (1 variants)
  • Autosomal dominant Alport syndrome;Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive (1 variants)
  • Autosomal recessive Alport syndrome;Autosomal dominant Alport syndrome;Benign familial 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)
1
clinvar
 1
splice region
2
 2
non coding
171
clinvar
487
clinvar
551
clinvar
1168
clinvar
172
clinvar
 2549
Total 171 488 551 1168 172

Highest pathogenic variant AF is 0.0000460

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 recessive Alport syndrome • Autosomal dominant Alport syndrome Benign (Jul 15, 2024)254978
2-227238007-GG-CA Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive;Autosomal dominant Alport syndrome Uncertain significance (Apr 01, 2024)3585959
2-227238007-GGG-CGA not specified Likely benign (Mar 28, 2024)3233713
2-227238011-C-A Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive;Autosomal dominant Alport syndrome Uncertain significance (Mar 27, 2024)3585960
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

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP