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

Variant allele T
14:g.56802068A>T
ENST00000554845.1:c.561T>A
ENSP00000451357.1:p.Tyr187Ter
ENST00000554559.5:c.*277T>A
ENST00000339475.9:c.561T>A
ENSP00000343819.4:p.Tyr187Ter
ENST00000555006.5:c.537T>A
ENSP00000452336.1:p.Tyr179Ter
ENST00000554788.5:c.*277T>A
ENST00000408990.7:c.537T>A
ENSP00000386185.3:p.Tyr179Ter

Variant allele C
14:g.56802068A>C
ENST00000554845.1:c.561T>G
ENSP00000451357.1:p.Tyr187Ter
ENST00000554559.5:c.*277T>G
ENST00000339475.9:c.561T>G
ENSP00000343819.4:p.Tyr187Ter
ENST00000555006.5:c.537T>G
ENSP00000452336.1:p.Tyr179Ter
ENST00000554788.5:c.*277T>G
ENST00000408990.7:c.537T>G
ENSP00000386185.3:p.Tyr179Ter

About this variant

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

Variant displays