NM_005159.5(ACTC1):c.421G>C (p.Val141Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003809962.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)]
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
Pegusa lascaris voucher FMNH119725 zinc finger protein 536 gene, partial cds
Pegusa lascaris voucher FMNH119725 zinc finger protein 536 gene, partial cdsgi|444292067|gb|JQ938627.1|Nucleotide
-
Elgaria multicarinata webbii isolate HBS135686 ecotype San Diego chromosome 17, ...
Elgaria multicarinata webbii isolate HBS135686 ecotype San Diego chromosome 17, rElgMul1.1.pri, whole genome shotgun sequencegi|2675825491|gnl|ASM:GCF_023053645 R_17|ref|NC_086187.1||gpp|GPC_000020990.1||gnl|NCBI_GENOMES|157636Nucleotide
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Last Updated: Sep 29, 2024