Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM971366

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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 4 phenotypes.

Variant displays