MFF-DT

MFF divergent transcript, the group of Divergent transcripts

Basic information

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	2
splice region						0
non coding	152	333	435	840	170	1930
Total	152	333	435	840	172

Highest pathogenic variant AF is 0.0000527

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP