Original source

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

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

Chromosome 16:3243310 (forward strand) | View in location tab


with HGMD-PUBLIC CM970914

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 42 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 32 transcripts, has 2543 sample genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays