Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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


with HGMD-PUBLIC CM971355

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 13064, 2010_April_001_198_SGSH_605270_0002

This variant has 19 HGVS names - click the plus to 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