rs104886300

This is a variant in the COL4A5 gene that changes a methionine to an isoleucine.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

4 submitters7 publications

X-linked Alport syndrome (ATS1)

About COL4A5

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

View all COL4A5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…