Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 12:109792396 (forward strand)|View in location tab

Co-located variants

COSMIC COSM96812 ; HGMD-PUBLIC CM083203

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13176

HGVS names

This variant has 17 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays