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 17:15231047 (forward strand) | View in location tab


with HGMD-PUBLIC CM930595 ; PhenCode IPNMDB_28 (G/A), IPNMDB_854 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays