NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) AND RPGRIP1L-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004531141.1
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:
- RPGRIP1L-related disorder
- Synonyms:
- RPGRIP1L-Related Disorders; RPGRIP1L-related condition
- Identifiers:
- MedGen: CN239416
-
Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 2, mRNA
Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 2, mRNAgi|226497573|ref|NM_016196.3|Nucleotide
-
Human gastrointestinal tumor-associated antigen GA733-1 protein gene, complete c...
Human gastrointestinal tumor-associated antigen GA733-1 protein gene, complete cds, clone 05516gi|182893|gb|J04152.1|HUMGA733ANucleotide
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ATP-binding cassette sub-family C member 8 isoform 3 [Mus musculus]
ATP-binding cassette sub-family C member 8 isoform 3 [Mus musculus]gi|2213206873|ref|NP_001390033.1|Protein
-
PREDICTED: Mus musculus ATP-binding cassette, sub-family C member 8 (Abcc8), tra...
PREDICTED: Mus musculus ATP-binding cassette, sub-family C member 8 (Abcc8), transcript variant X2, misc_RNAgi|1907178971|ref|XR_001785502.2|Nucleotide
-
PREDICTED: Mus musculus ATP-binding cassette, sub-family C member 8 (Abcc8), tra...
PREDICTED: Mus musculus ATP-binding cassette, sub-family C member 8 (Abcc8), transcript variant X12, misc_RNAgi|1907178991|ref|XR_001785512.2|Nucleotide
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Last Updated: Oct 13, 2024