NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000512693.22
Allele description [Variation Report for NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)]
NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 isoform X3 [Homo sap...
putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 isoform X3 [Homo sapiens]gi|2462513730|ref|XP_054194775.1|Protein
-
PREDICTED: Homo sapiens RNA polymerase II associated protein 2 (RPAP2), transcri...
PREDICTED: Homo sapiens RNA polymerase II associated protein 2 (RPAP2), transcript variant X3, mRNAgi|2462513729|ref|XM_054338800.1|Nucleotide
-
RecName: Full=Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; AltNa...
RecName: Full=Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; AltName: Full=RNA polymerase II-associated protein 2gi|74750745|sp|Q8IXW5.1|RPAP2_HUMANProtein
-
TNNI3 [Notechis scutatus]
TNNI3 [Notechis scutatus]Gene ID:113418613Gene
-
LOC109152625 [Ipomoea nil]
LOC109152625 [Ipomoea nil]Gene ID:109152625Gene
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Last Updated: Oct 8, 2024