Original source

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

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

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


with HGMD-PUBLIC CS091460

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance

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