Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/A/T | Ancestral: C | Ambiguity code: H

Chromosome 4:154585711 (forward strand) | View in location tab


with COSMIC COSM1637833 (C/A), COSM1579303 (C/T) ; HGMD-PUBLIC CM930250, CM0910627

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


LSDB 1934

This variant has 22 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays