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 12:57764147 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980512

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16362

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 13 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays