Original source

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

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

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


with COSMIC COSM1614460 (G/C), COSM1614461 (G/C) ; HGMD-PUBLIC CM022780

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 893, NP_000082.2:p.GLY985VAL

This variant has 12 HGVS names - click the plus to show

About this variant

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

Variant displays