Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM991258

Most severe consequence
 
Stop lost
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_055_ITM2B_603904_0001, 12245

This variant has 7 HGVS names - click the plus to show

About this variant

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

Variant displays