NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) AND Progressive myoclonic epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000535628.9
Allele description [Variation Report for NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)]
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)
Condition(s)
- Name:
- Progressive myoclonic epilepsy
- Synonyms:
- Myoclonic Epilepsies, Progressive; Familial progressive myoclonic epilepsy; Progressive myoclonus epilepsy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020074; MedGen: C0751778; Orphanet: 308; OMIM: PS254800
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Homo sapiens kallikrein-like protein 3 (KLK9) gene, complete cds, alternatively ...
Homo sapiens kallikrein-like protein 3 (KLK9) gene, complete cds, alternatively splicedgi|4589278|gb|AF135026.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024