Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 7:128254572 (forward strand) | View in location tab


with COSMIC COSM394549 (C/A) ; HGMD-PUBLIC CM981200

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 1 transcript and is associated with 3 phenotypes.

Variant displays