NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 25, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000237969.1
Allele description [Variation Report for NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)]
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
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RecName: Full=Neuromedin-B receptor; Short=NMB-R; AltName: Full=Epididymis tissu...
RecName: Full=Neuromedin-B receptor; Short=NMB-R; AltName: Full=Epididymis tissue protein Li 185a; AltName: Full=Neuromedin-B-preferring bombesin receptorgi|212286370|sp|P28336.2|NMBR_HUMANProtein
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LOC114270322 [Camellia sinensis]
LOC114270322 [Camellia sinensis]Gene ID:114270322Gene
-
HPODL_01447 [Ogataea parapolymorpha DL-1]
HPODL_01447 [Ogataea parapolymorpha DL-1]Gene ID:25770909Gene
-
Anemia, Myelophthisic
Anemia, MyelophthisicAnemia characterized by appearance of immature myeloid and nucleated erythrocytes in the peripheral blood, resulting from infiltration of the bone marrow by foreign or abnorma...<br/>MeSH
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Protein S Deficiency
Protein S DeficiencyAn autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitam...<br/>Year introduced: 1995MeSH
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Last Updated: May 1, 2024