Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 19:11378233 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980611

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_036_EPOR_133171_0006, 1760

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays