This variation has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 17:42992619 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032245, CM077747, CM010048 ; PhenCode HIFD_GFAP:c.236G>A (C/T), HIFD_GFAP:c.236G>T (C/A), HIFD_GFAP:c.236G>C (C/G)

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.42992619C>A
ENST00000585728.1:c.181+55G>T
ENST00000588316.1:c.236G>T
ENSP00000465629.1:p.Arg79Leu
ENST00000591327.1:n.250G>T
ENST00000588957.1:c.-272+566G>T
ENST00000376990.4:c.236G>T
ENSP00000366189.4:p.Arg79Leu
ENST00000592320.1:c.236G>T
ENSP00000465320.1:p.Arg79Leu
ENST00000253408.5:c.236G>T
ENSP00000253408.4:p.Arg79Leu
ENST00000435360.2:c.236G>T
ENSP00000403962.1:p.Arg79Leu
ENST00000586793.1:c.236G>T
ENSP00000468500.1:p.Arg79Leu
ENST00000588037.1:c.236G>T
ENSP00000466163.1:p.Arg79Leu
ENST00000588735.1:c.82+154G>T

Variant allele T
17:g.42992619C>T
ENST00000585728.1:c.181+55G>A
ENST00000588316.1:c.236G>A
ENSP00000465629.1:p.Arg79His
ENST00000591327.1:n.250G>A
ENST00000588957.1:c.-272+566G>A
ENST00000376990.4:c.236G>A
ENSP00000366189.4:p.Arg79His
ENST00000592320.1:c.236G>A
ENSP00000465320.1:p.Arg79His
ENST00000253408.5:c.236G>A
ENSP00000253408.4:p.Arg79His
ENST00000435360.2:c.236G>A
ENSP00000403962.1:p.Arg79His
ENST00000586793.1:c.236G>A
ENSP00000468500.1:p.Arg79His
ENST00000588037.1:c.236G>A
ENSP00000466163.1:p.Arg79His
ENST00000588735.1:c.82+154G>A

Variant allele G
17:g.42992619C>G
ENST00000585728.1:c.181+55G>C
ENST00000588316.1:c.236G>C
ENSP00000465629.1:p.Arg79Pro
ENST00000591327.1:n.250G>C
ENST00000588957.1:c.-272+566G>C
ENST00000376990.4:c.236G>C
ENSP00000366189.4:p.Arg79Pro
ENST00000592320.1:c.236G>C
ENSP00000465320.1:p.Arg79Pro
ENST00000253408.5:c.236G>C
ENSP00000253408.4:p.Arg79Pro
ENST00000435360.2:c.236G>C
ENSP00000403962.1:p.Arg79Pro
ENST00000586793.1:c.236G>C
ENSP00000468500.1:p.Arg79Pro
ENST00000588037.1:c.236G>C
ENSP00000466163.1:p.Arg79Pro
ENST00000588735.1:c.82+154G>C

Variation displays