Original source

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

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

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

Co-located

with HGMD-PUBLIC CM020975

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

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