Original source

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

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

Chromosome 5:132392510 (forward strand) | View in location tab


with HGMD-PUBLIC CM051225

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2767 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays