Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance


LSDB 13064, 2010_April_001_198_SGSH_605270_0002

This variation has 19 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

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

Variation displays