NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) AND Familial aplasia of the vermis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831120.1
Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)]
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
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
-
PREDICTED: monocarboxylate transporter 13 [Anolis carolinensis]
PREDICTED: monocarboxylate transporter 13 [Anolis carolinensis]gi|637375649|ref|XP_003230286.2|Protein
-
ABC transporter permease [Variovorax paradoxus]
ABC transporter permease [Variovorax paradoxus]gi|540272767|ref|WP_021012557.1|Protein
-
Zea mays cultivar 75-14gao CLA1 gene, promoter region
Zea mays cultivar 75-14gao CLA1 gene, promoter regiongi|1131048121|gb|KX397015.1|Nucleotide
-
sister chromatid cohesion protein PDS5 homolog A isoform X1 [Mus musculus]
sister chromatid cohesion protein PDS5 homolog A isoform X1 [Mus musculus]gi|568934559|ref|XP_006504178.1|Protein
-
Mus musculus PDS5 cohesin associated factor A (Pds5a), mRNA
Mus musculus PDS5 cohesin associated factor A (Pds5a), mRNAgi|1689867187|ref|NM_001081321.3|Nucleotide
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Last Updated: Oct 13, 2024