Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 17:80213815 (forward strand) | View in location tab


with HGMD-PUBLIC CM971366

Most severe consequence
Evidence status

Clinical significance


LSDB 2010_April_001_197_SGSH_605270_0001, 13063

This variation has 11 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 20 transcripts and is associated with 3 phenotypes.

Variation displays