NM_144573.4(NEXN):c.166_169del (p.Arg56fs) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 16, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000768796.2
Allele description [Variation Report for NM_144573.4(NEXN):c.166_169del (p.Arg56fs)]
NM_144573.4(NEXN):c.166_169del (p.Arg56fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens PIN2 (TERF1) interacting telomerase inhibitor 1 (PINX1), transcript...
Homo sapiens PIN2 (TERF1) interacting telomerase inhibitor 1 (PINX1), transcript variant 2, mRNAgi|1890328987|ref|NM_001284356.2|Nucleotide
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Last Updated: Sep 29, 2024