NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001865310.4
Allele description [Variation Report for NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)]
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
PREDICTED: Equus caballus GTF2I repeat domain containing 1 (GTF2IRD1), transcrip...
PREDICTED: Equus caballus GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant X1, mRNAgi|1333569571|ref|XM_023655487.1|Nucleotide
-
general transcription factor II-I repeat domain-containing protein 1 isoform X1 ...
general transcription factor II-I repeat domain-containing protein 1 isoform X1 [Equus caballus]gi|1333569572|ref|XP_023511255.1|Protein
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Last Updated: Sep 29, 2024