Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.01 (A)

Chromosome 19:8364439 (forward strand) | View in location tab


with HGMD-PUBLIC CM071551

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays