Original source

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

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

Chromosome 13:23324452 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1365850 ; HGMD-PUBLIC HM040058 ; PhenCode SGCG:c.787G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_064_SGCG_608896_0008, 16019, NC_000013.9:g.22796591G>A

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays