Original source

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

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

Chromosome 3:46858463 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS091460

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms
HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 4 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays