NM_015458.4(MTMR9):c.1605G>T (p.Gln535His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004514649.1
Allele description [Variation Report for NM_015458.4(MTMR9):c.1605G>T (p.Gln535His)]
NM_015458.4(MTMR9):c.1605G>T (p.Gln535His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Acyl Carrier Protein
Acyl Carrier ProteinConsists of a polypeptide chain and 4'-phosphopantetheine linked to a serine residue by a phosphodiester bond. Acyl groups are bound as thiol esters to the pantothenyl group. ...<br/>Year introduced: 1978MeSH
-
Calmodulin-Binding Proteins
Calmodulin-Binding ProteinsProteins which bind calmodulin. They are found in many tissues and have a variety of functions including F-actin cross-linking properties, inhibition of cyclic nucleotide phos...<br/>Year introduced: 1986MeSH
-
Protein Inhibitors of Activated STAT
Protein Inhibitors of Activated STATA family of structurally related proteins that are constitutively expressed and that negatively regulate cytokine-mediated SIGNAL TRANSDUCTION PATHWAYS. PIAS proteins inhibit ...<br/>Year introduced: 2006(1998)MeSH
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Lipocalin 1
Lipocalin 1A lipocalin that was orignally characterized from human TEARS. It is expressed primarily in the LACRIMAL GLAND and the VON EBNER GLANDS. Lipocalin 1 may play a role in olfacto...<br/>Year introduced: 2008(1990)MeSH
-
GRB10 Adaptor Protein
GRB10 Adaptor ProteinA binding partner for several RECEPTOR PROTEIN-TYROSINE KINASES, including INSULIN RECEPTOR and INSULIN-LIKE GROWTH FACTOR RECEPTOR. It contains a C-terminal SH2 DOMAIN and me...<br/>Year introduced: 2006(1995)MeSH
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Last Updated: Sep 1, 2024