Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 17:42992593 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 38 HGVS names - click the plus to show

Variant allele A
17:g.42992593G>A
ENST00000585728.1:c.181+81C>T
ENST00000588316.1:c.262C>T
ENSP00000465629.1:p.Arg88Cys
ENST00000591327.1:n.276C>T
ENST00000588957.1:c.-272+592C>T
ENST00000376990.4:c.262C>T
ENSP00000366189.4:p.Arg88Cys
ENST00000592320.1:c.262C>T
ENSP00000465320.1:p.Arg88Cys
ENST00000435360.2:c.262C>T
ENSP00000403962.1:p.Arg88Cys
ENST00000253408.5:c.262C>T
ENSP00000253408.4:p.Arg88Cys
ENST00000586793.1: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.42992593G>T
ENST00000585728.1:c.181+81C>A
ENST00000588316.1:c.262C>A
ENSP00000465629.1:p.Arg88Ser
ENST00000591327.1:n.276C>A
ENST00000588957.1:c.-272+592C>A
ENST00000376990.4:c.262C>A
ENSP00000366189.4:p.Arg88Ser
ENST00000592320.1:c.262C>A
ENSP00000465320.1:p.Arg88Ser
ENST00000435360.2:c.262C>A
ENSP00000403962.1:p.Arg88Ser
ENST00000253408.5:c.262C>A
ENSP00000253408.4:p.Arg88Ser
ENST00000586793.1:c.262C>A
ENSP00000468500.1:p.Arg88Ser
ENST00000588037.1:c.262C>A
ENSP00000466163.1:p.Arg88Ser
ENST00000588735.1:c.82+180C>A

Variation displays