NM_001276345.2(TNNT2):c.284T>C (p.Val95Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001920084.3
Allele description [Variation Report for NM_001276345.2(TNNT2):c.284T>C (p.Val95Ala)]
NM_001276345.2(TNNT2):c.284T>C (p.Val95Ala)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 2
- Synonyms:
- Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195
-
tyrosine 3-monooxygenase isoform a [Homo sapiens]
tyrosine 3-monooxygenase isoform a [Homo sapiens]gi|88900501|ref|NP_954986.2|Protein
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Last Updated: Sep 16, 2024