Original source

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

T/C/G | Ancestral: T | Ambiguity code: B

Chromosome 5:1266537 (forward strand) | View in location tab


with HGMD-PUBLIC CS072295

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 14 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays