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. These statistics are base on transcript: . Only rare variants are included in the table.

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
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	0	1	0	0	0

Highest pathogenic variant AF is 0.0000459963

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP