NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001724145.3
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)]
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
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G-type lectin S-receptor-like serine/threonine-protein kinase At1g34300 [Oryza sativa Japonica Group]gi|1002302662|ref|XP_015614710.1|Protein
-
Mus musculus casein kinase 1, delta (Csnk1d), transcript variant 2, mRNA
Mus musculus casein kinase 1, delta (Csnk1d), transcript variant 2, mRNAgi|2329049467|ref|NM_027874.3|Nucleotide
-
Rab3 GTPase-activating protein catalytic subunit [Arabidopsis thaliana]
Rab3 GTPase-activating protein catalytic subunit [Arabidopsis thaliana]gi|79537390|ref|NP_200317.2|Protein
-
Homo sapiens EF-hand domain family, member D2, mRNA (cDNA clone MGC:87102 IMAGE:...
Homo sapiens EF-hand domain family, member D2, mRNA (cDNA clone MGC:87102 IMAGE:5267148), complete cdsgi|46250413|gb|BC068473.1|Nucleotide
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Last Updated: Dec 11, 2022