Original source

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

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

Chromosome 16:3243403 (forward strand) | View in location tab


with HGMD-PUBLIC CM981245, CM055415

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 42 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 32 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays