Original source

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

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

Chromosome 12:40323256 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM053300

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, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays