Original source

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

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

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

Co-located variant

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