NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro) AND Okur-Chung neurodevelopmental syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002245284.1
Allele description [Variation Report for NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro)]
NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro)
Condition(s)
-
txid3002749[Organism:noexp] (1)
BioSample
-
Microbe sample from Stenotrophomonas sp. Sm0581
Microbe sample from Stenotrophomonas sp. Sm0581biosample
-
Gimap5 GTPase, IMAP family member 5 [Rattus norvegicus]
Gimap5 GTPase, IMAP family member 5 [Rattus norvegicus]Gene ID:246774Gene
-
Gene Links for Protein (Select 45271101) (1)
Gene
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023