NM_005159.5(ACTC1):c.342C>T (p.Pro114=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001506554.15
Allele description [Variation Report for NM_005159.5(ACTC1):c.342C>T (p.Pro114=)]
NM_005159.5(ACTC1):c.342C>T (p.Pro114=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
1700058J15Rik RIKEN cDNA 1700058J15 gene [Mus musculus]
1700058J15Rik RIKEN cDNA 1700058J15 gene [Mus musculus]Gene ID:76607Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024