NM_194456.1(KRIT1):c.*1750C>T AND Cerebral cavernous malformation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000357500.14
Allele description [Variation Report for NM_194456.1(KRIT1):c.*1750C>T]
NM_194456.1(KRIT1):c.*1750C>T
Condition(s)
- Name:
- Cerebral cavernous malformation (CCM)
- Synonyms:
- CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; CEREBRAL CAPILLARY MALFORMATIONS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0000820; MedGen: C2919945; Orphanet: 221061; OMIM: 116860; Human Phenotype Ontology: HP:0033522
Assertion and evidence details
Last Updated: Nov 3, 2024