Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 11:17463457 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991161

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000352.3:c.560T>A, 9256

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays