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 17:80217061 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971355

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13064, 2010_April_001_198_SGSH_605270_0002

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 29 transcripts and is associated with 3 phenotypes.

Variant displays