Original source

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

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

Chromosome 16:23348844 (forward strand) | View in location tab


with HGMD-PUBLIC CM055537

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2544 sample genotypes and is associated with 4 phenotypes.

Variant displays