NM_000304.4(PMP22):c.433del (p.Leu145fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000712774.2
Allele description [Variation Report for NM_000304.4(PMP22):c.433del (p.Leu145fs)]
NM_000304.4(PMP22):c.433del (p.Leu145fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-...
Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNAgi|11034810|ref|NM_001332.1|Nucleotide
-
PREDICTED: Canis lupus familiaris serine/threonine kinase 38 (STK38), transcript...
PREDICTED: Canis lupus familiaris serine/threonine kinase 38 (STK38), transcript variant X4, mRNAgi|1952973066|ref|XM_038553876.1|Nucleotide
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Last Updated: May 7, 2024