Original source

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

C/G | Ancestral: C | Ambiguity code: S | MAF: 0.03 (G)

Chromosome 5:147831542 (forward strand) | View in location tab


with HGMD-PUBLIC HM030003

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2544 sample genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays