Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

A/C | Ancestral: A | Ambiguity code: M

Chromosome 10:80274639 (forward strand) | View in location tab


with HGMD-PUBLIC CM950788

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays