Original source

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

G/T | Ancestral: G | Ambiguity code: K

Chromosome 3:46373082 (forward strand) | View in location tab


with HGMD-PUBLIC CM011916

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

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 3 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays