NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro) AND Episodic kinesigenic dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000694996.9
Allele description [Variation Report for NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro)]
NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro)
Condition(s)
-
Rattus norvegicus coiled-coil domain containing 43, mRNA (cDNA clone IMAGE:73747...
Rattus norvegicus coiled-coil domain containing 43, mRNA (cDNA clone IMAGE:7374779), partial cdsgi|60688201|gb|BC091255.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024