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 17:42990701 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010050, CM023922, CM067416 ; PhenCode HIFD_GFAP:c.716G>A (C/T), HIFD_GFAP:c.716G>C (C/G), HIFD_GFAP:c.716G>T (C/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 51 HGVS names - click the plus to show

Variant allele A
17:g.42990701C>A
ENST00000587997.1:c.192G>T
ENSP00000465624.1:p.Arg65Leu
ENST00000585728.1:c.*360G>T
ENST00000588316.1:c.620G>T
ENSP00000465629.1:p.Arg207Leu
ENST00000588957.1:c.-17G>T
ENST00000376990.4:c.*115G>T
ENST00000592320.1:c.618+395G>T
ENST00000253408.5:c.716G>T
ENSP00000253408.4:p.Arg239Leu
ENST00000435360.2:c.716G>T
ENSP00000403962.1:p.Arg239Leu
ENST00000586793.1:c.716G>T
ENSP00000468500.1:p.Arg239Leu
ENST00000590922.1:n.366G>T
ENST00000588735.1:c.82+2072G>T

Variant allele T
17:g.42990701C>T
ENST00000587997.1:c.192G>A
ENSP00000465624.1:p.Arg65His
ENST00000585728.1:c.*360G>A
ENST00000588316.1:c.620G>A
ENSP00000465629.1:p.Arg207His
ENST00000588957.1:c.-17G>A
ENST00000376990.4:c.*115G>A
ENST00000592320.1:c.618+395G>A
ENST00000253408.5:c.716G>A
ENSP00000253408.4:p.Arg239His
ENST00000435360.2:c.716G>A
ENSP00000403962.1:p.Arg239His
ENST00000586793.1:c.716G>A
ENSP00000468500.1:p.Arg239His
ENST00000590922.1:n.366G>A
ENST00000588735.1:c.82+2072G>A

Variant allele G
17:g.42990701C>G
ENST00000587997.1:c.192G>C
ENSP00000465624.1:p.Arg65Pro
ENST00000585728.1:c.*360G>C
ENST00000588316.1:c.620G>C
ENSP00000465629.1:p.Arg207Pro
ENST00000588957.1:c.-17G>C
ENST00000376990.4:c.*115G>C
ENST00000592320.1:c.618+395G>C
ENST00000253408.5:c.716G>C
ENSP00000253408.4:p.Arg239Pro
ENST00000435360.2:c.716G>C
ENSP00000403962.1:p.Arg239Pro
ENST00000586793.1:c.716G>C
ENSP00000468500.1:p.Arg239Pro
ENST00000590922.1:n.366G>C
ENST00000588735.1:c.82+2072G>C

Variation displays