NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) AND Developmental and epileptic encephalopathy, 87
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250507.11
Allele description [Variation Report for NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)]
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)
Condition(s)
-
Mus musculus strain FVB/N fatty acid 2-hydroxylase (Fa2h) mRNA, complete cds
Mus musculus strain FVB/N fatty acid 2-hydroxylase (Fa2h) mRNA, complete cdsgi|56068192|gb|AY660882.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024