Original source

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

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

Chromosome 8:132882609 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM994511

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 5580

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays