NC_012920.1(MT-TL1):m.3303C>T AND MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 1999
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004554594.1
Allele description [Variation Report for NC_012920.1(MT-TL1):m.3303C>T]
NC_012920.1(MT-TL1):m.3303C>T
Condition(s)
- Name:
- MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
- Identifiers:
-
Rubus humilifolius (654)
PopSet
-
Rubus humilifolius AND 1[s_discriminator] (0)
dbGaP
-
SAMN03790805 (1)
SRA
-
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacterium
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacteriumbiosample
-
protein tyrosine phosphatase type IVA 3 isoform 1 [Mus musculus]
protein tyrosine phosphatase type IVA 3 isoform 1 [Mus musculus]gi|31543527|ref|NP_033001.2|Protein
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Last Updated: Oct 26, 2024