NM_005055.5(RAPSN):c.1166+10C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003083961.2
Allele description [Variation Report for NM_005055.5(RAPSN):c.1166+10C>T]
NM_005055.5(RAPSN):c.1166+10C>T
Condition(s)
- Name:
- Fetal akinesia deformation sequence 1 (FADS1)
- Synonyms:
- Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
-
Gene Links for GEO Profiles (Select 127895138) (1)
Gene
-
IL12RB2 interleukin 12 receptor subunit beta 2 [Homo sapiens]
IL12RB2 interleukin 12 receptor subunit beta 2 [Homo sapiens]Gene ID:3595Gene
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Last Updated: Feb 28, 2024