This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 17:43124016 (forward strand) | View in location tab


with COSMIC COSM436669 (C/T), COSM3734724 (C/A)

Most severe consequence
Splice donor variant
Evidence status

Clinical significance


LSDB U14680.1:c.80+1G>T, U14680.1:c.80+1G>C, U14680.1:c.80+1G>A

HGVS names

This variant has 72 HGVS names - Show

About this variant

This variant overlaps 78 transcripts and is associated with 2 phenotypes.

Variant displays