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

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

Chromosome 4:154585712 (forward strand) | View in location tab


with HGMD-PUBLIC CM930251

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


LSDB 1936

HGVS names

This variant has 33 HGVS names - Show

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays