Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 2:227289222 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1614461, COSM1614460 ; HGMD-PUBLIC CM022780

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 893, NP_000082.2:p.GLY985VAL

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays