Original source

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

T/A | Ancestral: T | Ambiguity code: W | MAF: < 0.01 (A)

Chromosome 3:46373205 (forward strand) | View in location tab


with HGMD-PUBLIC CM980312

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 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, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays