NM_194454.3(KRIT1):c.1974G>A (p.Val658=) AND Cerebral cavernous malformation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001158793.4
Allele description [Variation Report for NM_194454.3(KRIT1):c.1974G>A (p.Val658=)]
NM_194454.3(KRIT1):c.1974G>A (p.Val658=)
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: Jul 16, 2023