Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM061837

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to 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