NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001362898.3
Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)]
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
Condition(s)
- Name:
- Familial aplasia of the vermis
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
-
Vibrio sp. LC103 16S ribosomal RNA gene, partial sequence
Vibrio sp. LC103 16S ribosomal RNA gene, partial sequencegi|724785288|gb|KM360405.1|Nucleotide
-
UI-R-BJ1-avm-c-10-0-UI.s1 UI-R-BJ1 Rattus norvegicus cDNA clone UI-R-BJ1-avm-c-1...
UI-R-BJ1-avm-c-10-0-UI.s1 UI-R-BJ1 Rattus norvegicus cDNA clone UI-R-BJ1-avm-c-10-0-UI 3', mRNA sequencegi|8504513|gnl|dbEST|4668739|gb|BE1 .1|Nucleotide
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Last Updated: Sep 29, 2024