Original source

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

Alleles
A/C/T | Ancestral: A | Ambiguity code: H | MAF: < 0.01 (G)
Location

Chromosome 14:56802068 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051597

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_050_OTX2_600037_0004, 8843

This variant has 22 HGVS names - click the plus to show

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays