NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 13, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001265992.10
Allele description [Variation Report for NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)]
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
SAMEA6166168 (1)
SRA
-
double-strand break repair protein MRE11 isoform X2 [Homo sapiens]
double-strand break repair protein MRE11 isoform X2 [Homo sapiens]gi|2462525332|ref|XP_054224817.1|Protein
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OMIM Links for Nucleotide (Select 1497290737) (2)
OMIM
-
Homo sapiens MINDY lysine 48 deubiquitinase 4 (MINDY4), mRNA
Homo sapiens MINDY lysine 48 deubiquitinase 4 (MINDY4), mRNAgi|1519243680|ref|NM_032222.3|Nucleotide
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Homo sapiens cDNA, FLJ93743, Homo sapiens Rhesus blood group, C glycoprotein (RH...
Homo sapiens cDNA, FLJ93743, Homo sapiens Rhesus blood group, C glycoprotein (RHCG), mRNAgi|164693037|dbj|AK313238.1|Nucleotide
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Last Updated: May 12, 2024