NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup) AND VACTERL association, X-linked, with or without hydrocephalus
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000022847.11
Allele description [Variation Report for NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup)]
NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup)
Condition(s)
- Name:
- VACTERL association, X-linked, with or without hydrocephalus (VACTERLX)
- Synonyms:
- VACTERL-H, X-LINKED; VACTERL Association with Hydrocephalus, X-linked; VACTERL association with hydrocephaly, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010752; MedGen: C2931228; Orphanet: 3412; OMIM: 314390
Assertion and evidence details
Last Updated: Dec 24, 2022