NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000725404.25
Allele description [Variation Report for NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)]
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
LOC114306949 [Camellia sinensis]
LOC114306949 [Camellia sinensis]Gene ID:114306949Gene
-
PRPS2 phosphoribosyl pyrophosphate synthetase 2 [Homo sapiens]
PRPS2 phosphoribosyl pyrophosphate synthetase 2 [Homo sapiens]Gene ID:5634Gene
-
Gene Links for GEO Profiles (Select 121144449) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 121159211) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 121172560) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024