NM_000070.3(CAPN3):c.2182C>T (p.Gln728Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001091251.21
Allele description [Variation Report for NM_000070.3(CAPN3):c.2182C>T (p.Gln728Ter)]
NM_000070.3(CAPN3):c.2182C>T (p.Gln728Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Mus musculus zinc finger protein 30 (Zfp30), transcript variant 4, mRNA
Mus musculus zinc finger protein 30 (Zfp30), transcript variant 4, mRNAgi|1336503519|ref|NM_001360209.1|Nucleotide
-
Mus musculus zinc finger protein 30 (Zfp30), transcript variant 2, mRNA
Mus musculus zinc finger protein 30 (Zfp30), transcript variant 2, mRNAgi|1336503539|ref|NM_001360208.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024