Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: < 0.01 (C)

Chromosome 16:89920138 (forward strand) | View in location tab


with HGMD-PUBLIC CM950790

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 42 transcripts, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 14 citations.

Variant displays