Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 17:44915225 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4066998, COSM4066997 ; HGMD-PUBLIC CM013268, CM013269 ; PhenCode HIFD_GFAP:c.262C>A (G/T), HIFD_GFAP:c.262C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 38 HGVS names - Hide

Variant allele A
17:g.44915225G>A
ENST00000585728.5:c.181+81C>T
ENST00000588316.1:c.262C>T
ENSP00000465629.1:p.Arg88Cys
ENST00000591327.1:n.276C>T
ENST00000588957.5:c.-272+592C>T
ENST00000376990.8:c.262C>T
ENSP00000366189.4:p.Arg88Cys
ENST00000592320.5:c.262C>T
ENSP00000465320.1:p.Arg88Cys
ENST00000253408.9:c.262C>T
ENSP00000253408.4:p.Arg88Cys
ENST00000435360.6:c.262C>T
ENSP00000403962.1:p.Arg88Cys
ENST00000586793.5:c.262C>T
ENSP00000468500.1:p.Arg88Cys
ENST00000588037.1:c.262C>T
ENSP00000466163.1:p.Arg88Cys
ENST00000588735.1:c.82+180C>T

Variant allele T
17:g.44915225G>T
ENST00000585728.5:c.181+81C>A
ENST00000588316.1:c.262C>A
ENSP00000465629.1:p.Arg88Ser
ENST00000591327.1:n.276C>A
ENST00000588957.5:c.-272+592C>A
ENST00000376990.8:c.262C>A
ENSP00000366189.4:p.Arg88Ser
ENST00000592320.5:c.262C>A
ENSP00000465320.1:p.Arg88Ser
ENST00000253408.9:c.262C>A
ENSP00000253408.4:p.Arg88Ser
ENST00000435360.6:c.262C>A
ENSP00000403962.1:p.Arg88Ser
ENST00000586793.5:c.262C>A
ENSP00000468500.1:p.Arg88Ser
ENST00000588037.1:c.262C>A
ENSP00000466163.1:p.Arg88Ser
ENST00000588735.1:c.82+180C>A

About this variant

This variant overlaps 40 transcripts and is associated with 7 phenotypes.

Variant displays