Original source

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

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

Chromosome 11:67490911 (forward strand) | View in location tab


with HGMD-PUBLIC CM070646

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_003977.2:c.911G>A, 2010_April_001_004_AIP_605555_0008, 13284

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 13 transcripts and is associated with 2 phenotypes.

Variant displays