Original source

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

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

Chromosome 16:88646131 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM960428 ; PhenCode CYBAbase_D0024:g.5911C>A (G/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 32 HGVS names - Hide

Variant allele A
16:g.88646131G>A
ENST00000567174.5:c.354C>T
ENST00000567174.5:c.354C>T(p.=)
ENST00000563526.5:n.886C>T
ENST00000566229.1:c.343C>T
ENSP00000457060.1:p.Arg115Trp
ENST00000569359.5:c.354C>T
ENST00000569359.5:c.354C>T(p.=)
ENST00000565588.5:c.138C>T
ENSP00000455537.1:p.Arg47Trp
ENST00000261623.7:c.354C>T
ENST00000261623.7:c.354C>T(p.=)
ENST00000566534.5:n.933C>T
LRG_52:g.9919C>T
LRG_52t1:c.354C>T
LRG_52t1:c.354C>T(p.=)

Variant allele T
16:g.88646131G>T
ENST00000567174.5:c.354C>A
ENSP00000454951.1:p.Ser118Arg
ENST00000563526.5:n.886C>A
ENST00000566229.1:c.343C>A
ENST00000566229.1:c.343C>A(p.=)
ENST00000569359.5:c.354C>A
ENSP00000456079.1:p.Ser118Arg
ENST00000565588.5:c.138C>A
ENST00000565588.5:c.138C>A(p.=)
ENST00000261623.7:c.354C>A
ENSP00000261623.3:p.Ser118Arg
ENST00000566534.5:n.933C>A
LRG_52:g.9919C>A
LRG_52t1:c.354C>A
LRG_52p1:p.Ser118Arg

About this variant

This variant overlaps 22 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays