Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 4:185144963 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020975

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

4:g.185144963A>G
ENST00000491736.1:c.311A>G
ENSP00000476711.1:p.Asp104Gly
ENST00000281456.10:c.311A>G
ENSP00000281456.5:p.Asp104Gly

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays