Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 12:109792695 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1358652 ; HGMD-PUBLIC CM091510

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13177, NM_021625.3:c.1781G>A

HGVS names

This variant has 17 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays