Original source

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

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

Chromosome 13:48261222 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991258

Most severe consequence
 
Stop lost
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_055_ITM2B_603904_0001, 12245

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays