NM_005159.5(ACTC1):c.267C>T (p.His89=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003794532.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.267C>T (p.His89=)]
NM_005159.5(ACTC1):c.267C>T (p.His89=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
Reinhardtius hippoglossoides voucher UW 47290 cytochrome b (CYTB) gene, complete...
Reinhardtius hippoglossoides voucher UW 47290 cytochrome b (CYTB) gene, complete cds; and tRNA-Thr (trnT) gene, complete sequence; mitochondrialgi|1371544020|gb|MH031940.1|Nucleotide
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PREDICTED: Homo sapiens lipase H (LIPH), transcript variant X1, mRNA
PREDICTED: Homo sapiens lipase H (LIPH), transcript variant X1, mRNAgi|2462587925|ref|XM_054345618.1|Nucleotide
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Last Updated: Sep 29, 2024