NM_006420.3(ARFGEF2):c.*2820T>G AND Periventricular heterotopia with microcephaly, autosomal recessive
- Germline classification:
- Uncertain significance (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:
- RCV000273072.5
Allele description [Variation Report for NM_006420.3(ARFGEF2):c.*2820T>G]
NM_006420.3(ARFGEF2):c.*2820T>G
Condition(s)
- Name:
- Periventricular heterotopia with microcephaly, autosomal recessive (ARPHM)
- Synonyms:
- PERIVENTRICULAR NODULAR HETEROTOPIA 2; Heterotopia, periventricular, autosomal recessive; Periventricular heterotopia with microcephaly
- Identifiers:
- MONDO: MONDO:0011966; MedGen: C1842563; Orphanet: 2149; OMIM: 608097
Assertion and evidence details
Last Updated: Apr 9, 2023