Original source

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

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

Chromosome 11:47448832 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM073304

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10270

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays