Original source

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

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

Chromosome 3:171014539 (forward strand) | View in location tab


with HGMD-PUBLIC CM951160

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2684 sample genotypes and is mentioned in 1 citation.

Variant displays