NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002554657.2
Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)]
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
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
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CCT protein [Zea mays]
CCT protein [Zea mays]gi|545585877|gb|AGW42972.1|Protein
-
Streptococcus agalactiae strain LACPHL-SPEC-2024-00510 contig00014, whole genome...
Streptococcus agalactiae strain LACPHL-SPEC-2024-00510 contig00014, whole genome shotgun sequencegi|2792966425|ref|NZ_JBGNCD01000001 gnl|WGS:NZ_JBGNCD01|contig00014Nucleotide
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MULTISPECIES: TepA modulator TepJ [Bacteria]
MULTISPECIES: TepA modulator TepJ [Bacteria]gi|489324564|ref|WP_003231871.1|Protein
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anoctamin-8 isoform X6 [Rattus norvegicus]
anoctamin-8 isoform X6 [Rattus norvegicus]gi|1958690944|ref|XP_038950931.1|Protein
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Rattus norvegicus F-box and leucine-rich repeat protein 7 (Fbxl7), mRNA
Rattus norvegicus F-box and leucine-rich repeat protein 7 (Fbxl7), mRNAgi|157818662|ref|NM_001108545.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024