NM_000159.4(GCDH):c.1244-17G>C AND Glutaric aciduria, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003498123.1
Allele description [Variation Report for NM_000159.4(GCDH):c.1244-17G>C]
NM_000159.4(GCDH):c.1244-17G>C
Condition(s)
- Name:
- Glutaric aciduria, type 1
- Synonyms:
- GA I; Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009281; MedGen: C0268595; Orphanet: 25; OMIM: 231670
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PREDICTED: Homo sapiens nebulin (NEB), transcript variant X23, mRNA
PREDICTED: Homo sapiens nebulin (NEB), transcript variant X23, mRNAgi|2217328281|ref|XM_005246608.3|Nucleotide
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PREDICTED: Homo sapiens nebulin (NEB), transcript variant X4, mRNA
PREDICTED: Homo sapiens nebulin (NEB), transcript variant X4, mRNAgi|2462573583|ref|XM_054342214.1|Nucleotide
-
nebulin isoform X2 [Homo sapiens]
nebulin isoform X2 [Homo sapiens]gi|2462573580|ref|XP_054198187.1|Protein
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RecName: Full=Phospholipid phosphatase 2; AltName: Full=Lipid phosphate phosphoh...
RecName: Full=Phospholipid phosphatase 2; AltName: Full=Lipid phosphate phosphohydrolase 2; AltName: Full=PAP2-gamma; Short=PAP2-G; AltName: Full=Phosphatidate phosphohydrolase type 2c; AltName: Full=Phosphatidic acid phosphatase 2c; Short=PAP-2c; Short=PAP2cgi|45477001|sp|Q8K593.1|PLPP2_RATProtein
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PREDICTED: Homo sapiens forkhead associated phosphopeptide binding domain 1 (FHA...
PREDICTED: Homo sapiens forkhead associated phosphopeptide binding domain 1 (FHAD1), transcript variant X10, mRNAgi|2217263612|ref|XM_017000202.2|Nucleotide
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Last Updated: Jun 9, 2024