This variation has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
G/A/C/T | Ancestral: G | Ambiguity code: N
Location

Chromosome 17:44915252 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023072, CM010047 ; PhenCode HIFD_GFAP:c.235C>T (G/A), HIFD_GFAP:c.235C>G (G/C), HIFD_GFAP:c.235C>A (G/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 57 HGVS names - click the plus to show

Variant allele A
17:g.44915252G>A
ENST00000585728.2:c.181+54C>T
ENST00000588316.1:c.235C>T
ENSP00000465629.1:p.Arg79Cys
ENST00000591327.1:n.249C>T
ENST00000588957.2:c.-272+565C>T
ENST00000376990.5:c.235C>T
ENSP00000366189.4:p.Arg79Cys
ENST00000592320.2:c.235C>T
ENSP00000465320.1:p.Arg79Cys
ENST00000435360.3:c.235C>T
ENSP00000403962.1:p.Arg79Cys
ENST00000253408.6:c.235C>T
ENSP00000253408.4:p.Arg79Cys
ENST00000586793.2:c.235C>T
ENSP00000468500.1:p.Arg79Cys
ENST00000588037.1:c.235C>T
ENSP00000466163.1:p.Arg79Cys
ENST00000588735.1:c.82+153C>T

Variant allele T
17:g.44915252G>T
ENST00000585728.2:c.181+54C>A
ENST00000588316.1:c.235C>A
ENSP00000465629.1:p.Arg79Ser
ENST00000591327.1:n.249C>A
ENST00000588957.2:c.-272+565C>A
ENST00000376990.5:c.235C>A
ENSP00000366189.4:p.Arg79Ser
ENST00000592320.2:c.235C>A
ENSP00000465320.1:p.Arg79Ser
ENST00000435360.3:c.235C>A
ENSP00000403962.1:p.Arg79Ser
ENST00000253408.6:c.235C>A
ENSP00000253408.4:p.Arg79Ser
ENST00000586793.2:c.235C>A
ENSP00000468500.1:p.Arg79Ser
ENST00000588037.1:c.235C>A
ENSP00000466163.1:p.Arg79Ser
ENST00000588735.1:c.82+153C>A

Variant allele C
17:g.44915252G>C
ENST00000585728.2:c.181+54C>G
ENST00000588316.1:c.235C>G
ENSP00000465629.1:p.Arg79Gly
ENST00000591327.1:n.249C>G
ENST00000588957.2:c.-272+565C>G
ENST00000376990.5:c.235C>G
ENSP00000366189.4:p.Arg79Gly
ENST00000592320.2:c.235C>G
ENSP00000465320.1:p.Arg79Gly
ENST00000435360.3:c.235C>G
ENSP00000403962.1:p.Arg79Gly
ENST00000253408.6:c.235C>G
ENSP00000253408.4:p.Arg79Gly
ENST00000586793.2:c.235C>G
ENSP00000468500.1:p.Arg79Gly
ENST00000588037.1:c.235C>G
ENSP00000466163.1:p.Arg79Gly
ENST00000588735.1:c.82+153C>G

Variation displays