Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 14:56802340 (forward strand)|View in location tab

Co-located variants

COSMIC COSM257656 ; HGMD-PUBLIC CM104945, CM051593

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_049_OTX2_600037_0002, 8841

HGVS names

This variant has 13 HGVS names - Hide

14:g.56802340G>C
ENST00000554845.1:c.289C>G
ENSP00000451357.1:p.Arg97Gly
ENST00000554559.5:c.*5C>G
ENST00000339475.9:c.289C>G
ENSP00000343819.4:p.Arg97Gly
ENST00000555804.1:c.265C>G
ENSP00000451272.1:p.Arg89Gly
ENST00000555006.5:c.265C>G
ENSP00000452336.1:p.Arg89Gly
ENST00000554788.5:c.*5C>G
ENST00000408990.7:c.265C>G
ENSP00000386185.3:p.Arg89Gly

About this variant

This variant overlaps 7 transcripts and is associated with 4 phenotypes.

Variant displays