Original source

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

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

Chromosome 5:136062674 (forward strand) | View in location tab


with HGMD-PUBLIC CM062013

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays