Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

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


with HGMD-PUBLIC CM971366

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_197_SGSH_605270_0001, 13063

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 20 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays