NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) AND LDLR-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003897581.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)]
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
Condition(s)
- Name:
- LDLR-related disorder
- Synonyms:
- LDLR-related condition
- Identifiers:
-
prostaglandin reductase 3 isoform 1 [Homo sapiens]
prostaglandin reductase 3 isoform 1 [Homo sapiens]gi|28557745|ref|NP_787103.1|Protein
-
LOC114270794 [Camellia sinensis]
LOC114270794 [Camellia sinensis]Gene ID:114270794Gene
-
txid297314[Organism] (32312)
BioSample
-
"85557-18-2"[CompleteSynonym] (1)
PubChem Compound
-
BP692171 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP692171 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL467l01ex 5', mRNA sequencegi|46040126|gnl|dbEST|24557204|dbj| 171.1|Nucleotide
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Last Updated: Aug 25, 2024