MFF-DT

Gene

MFF divergent transcript, the group of Divergent transcripts

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1

Top phenotype

Autosomal dominant Alport syndrome

Max pathogenic AF

—

Genomic locus

chr2:227,221,052-227,325,711

External References & Databases

Ensembl (ENSG00000236432)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MFF-DT variants in ClinVar

15 Conditions Cataloged

not providedTotal: 138

Autosomal dominant Alport syndromeTotal: 24

Autosomal recessive Alport syndromeTotal: 21

Alport syndromeTotal: 15

Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive;Autosomal dominant Alport syndromeTotal: 11

Alport syndrome 3b, autosomal recessiveTotal: 5

COL4A3-related disorderTotal: 3

Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2;Autosomal dominant Alport syndromeTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	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	1

Highest pathogenic variant AF is 0.0000459963

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.