Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:169477478 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3802763 ; HGMD-PUBLIC CM991264

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_252_SLC19A2_603941_0001, 12261

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays