NM_000237.3(LPL):c.*1742T>C AND Hyperlipoproteinemia, type I
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000277765.5
Allele description [Variation Report for NM_000237.3(LPL):c.*1742T>C]
NM_000237.3(LPL):c.*1742T>C
Condition(s)
- Name:
- Hyperlipoproteinemia, type I
- Synonyms:
- HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Hyperlipoproteinemia type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009387; MedGen: C0023817; Orphanet: 444490; OMIM: 238600
-
Hexim1 AND (alive[prop]) (1902)
Gene
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|194378068|dbj|BAG63397.1|Protein
-
Chain A, ACYL CARRIER PROTEIN
Chain A, ACYL CARRIER PROTEINgi|18655669|pdb|1HY8|AProtein
-
Homo sapiens HLA-DRB1 gene for major histocompatibility complex, class II, DR be...
Homo sapiens HLA-DRB1 gene for major histocompatibility complex, class II, DR beta 1, complete cds, allele: HLA-DRB1*04:10:(03)gi|520189641|dbj|AB715391.2|Nucleotide
-
alaS [Lactococcus lactis subsp. lactis Il1403]
alaS [Lactococcus lactis subsp. lactis Il1403]Gene ID:1115387Gene
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Last Updated: Feb 20, 2024