Canonical Allele Identifier: CA10360541
Gene: CDKL5 HGNC NCBI
ClinGen Classification:
Classification Likely Benign
Condition CDKL5 disorder
VCEP Rett and Angelman-like Disorders VCEP
ClinVar RCV:
RCV000420425
RCV000503048
RCV001034449
RCV002446647
RCV003448302
RCV004530527
ClinVar Variation:
377094
dbSNP:
376429571
gnomAD v2:
X:18643336 G / A
gnomAD v3:
X:18625216 G / A
gnomAD v4:
chrX-18625216-G-A
Joint Max Group AF 0.00001259 (NFE)
Genomes Max Group AF 0.00002574 (NFE)
Exomes Max Group AF 0.00000966 (NFE)
MyVariant.info:
GRCh38 chrX:g.18625216G>A
GRCh37 chrX:g.18643336G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18625216G>A , CM000685.2:g.18625216G>A GRCh38
NC_000023.10:g.18643336G>A , CM000685.1:g.18643336G>A GRCh37
NC_000023.9:g.18553257G>A NCBI36
NG_008475.1:g.204612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2465G>A MANE Select ENSP00000485244.1:p.Arg822His
ENST00000635828.1:c.2465G>A ENSP00000490170.1:p.Arg822His
ENST00000674046.1:c.2588G>A ENSP00000501174.1:p.Arg863His
ENST00000379989.6:c.2465G>A ENSP00000369325.3:p.Arg822His
ENST00000379996.7:c.2465G>A ENSP00000369332.3:p.Arg822His
ENST00000623535.1:c.2465G>A ENSP00000485244.1:p.Arg822His
NM_001037343.1:c.2465G>A NP_001032420.1:p.Arg822His
NM_003159.2:c.2465G>A NP_003150.1:p.Arg822His
XM_011545569.1:c.2537G>A XP_011543871.1:p.Arg846His
XM_011545570.1:c.2456G>A XP_011543872.1:p.Arg819His
XR_950484.1:n.2840G>A
NM_001323289.1:c.2465G>A NP_001310218.1:p.Arg822His
NM_001323289.2:c.2465G>A MANE Select NP_001310218.1:p.Arg822His
NM_001037343.2:c.2465G>A NP_001032420.1:p.Arg822His
NM_003159.3:c.2465G>A NP_003150.1:p.Arg822His
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