Original source

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

A/G | Ancestral: A | Ambiguity code: R

Chromosome 11:17461731 (forward strand) | View in location tab


with HGMD-PUBLIC CM072822

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts, has 264 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays