Original source

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

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

Chromosome 12:40340380 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061837

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ImmunoChip

About this variant

This variant overlaps 3 transcripts, has 1 sample genotype, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays