Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM070646

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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