Original source

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

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

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


with HGMD-PUBLIC CM061837

Most severe consequence
Missense variant
Evidence status

Clinical significance


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