The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No CSPEC related information was provided by the message!
- No Criteria Specification was provided in the publication event for the variant classifaction.
- The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.
CA233657
166821 (ClinVar)
Gene: CDKL5 (HGNC:6792)
Condition: CDKL5 disorder
(MONDO:0100039)
Inheritance Mode: X-linked inheritance
UUID: 64f0a058-01b0-4b3f-8cbc-0957e3e5ea8d
Approved on: 2023-04-14
Published on: 2023-06-16
HGVS expressions
NM_001323289.2:c.2388C>T
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)
NC_000023.11:g.18625139C>T
CM000685.2:g.18625139C>T
NC_000023.10:g.18643259C>T
CM000685.1:g.18643259C>T
NC_000023.9:g.18553180C>T
NG_008475.1:g.204535C>T
ENST00000623535.2:c.2388C>T
ENST00000635828.1:c.2388C>T
ENST00000674046.1:c.2511C>T
ENST00000379989.6:c.2388C>T
ENST00000379996.7:c.2388C>T
ENST00000623535.1:n.2388C>T
NM_001037343.1:c.2388C>T
NM_003159.2:c.2388C>T
NM_001323289.1:c.2388C>T
NM_001037343.2:c.2388C>T
NM_003159.3:c.2388C>T
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Evidence submitted by expert panel
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