NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000211865.5
Allele description [Variation Report for NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)]
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Human serine/threonine kinase receptor-2-2 (SKR2-2) mRNA, complete cds
Human serine/threonine kinase receptor-2-2 (SKR2-2) mRNA, complete cdsgi|558101|gb|L10125.1|HUMSKR22ANucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024