Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D
Location

Chromosome 12:56042167 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM101049, CM112487, CM101048

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB 21161, 21162

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays