NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) AND Heterotopia, periventricular, X-linked dominant
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000170400.1
Allele description [Variation Report for NM_001110556.2(FLNA):c.1061_1065del (p.His354fs)]
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs)
Condition(s)
- Name:
- Heterotopia, periventricular, X-linked dominant (PVNH1)
- Synonyms:
- PERIVENTRICULAR NODULAR HETEROTOPIA 1; X-linked periventricular heterotopia; Heterotopia familial nodular; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010233; MedGen: C1848213; Orphanet: 2149; Orphanet: 82004; OMIM: 300049
Assertion and evidence details
Last Updated: May 26, 2024