NM_024422.6(DSC2):c.2162del (p.Thr721fs) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001181412.3
Allele description [Variation Report for NM_024422.6(DSC2):c.2162del (p.Thr721fs)]
NM_024422.6(DSC2):c.2162del (p.Thr721fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Rattus norvegicus xylosyltransferase II, mRNA (cDNA clone MGC:124608 IMAGE:79305...
Rattus norvegicus xylosyltransferase II, mRNA (cDNA clone MGC:124608 IMAGE:7930580), complete cdsgi|77415394|gb|BC105767.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 5, 2022