Original source

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

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 4:127930800 (forward strand) | View in location tab


with HGMD-PUBLIC CM091346

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays