NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631370.1
Allele description
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr)
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
-
hypothetical protein C290910_224 [Synechococcus phage S-CAM1]
hypothetical protein C290910_224 [Synechococcus phage S-CAM1]gi|1074040098|gb|AOV58476.1|Protein
-
PREDICTED: Mus musculus predicted gene 28111 (Gm28111), ncRNA
PREDICTED: Mus musculus predicted gene 28111 (Gm28111), ncRNAgi|1907201549|ref|XR_379816.3|Nucleotide
-
Gluco15 Glucose level QTL 15 [Rattus norvegicus]
Gluco15 Glucose level QTL 15 [Rattus norvegicus]Gene ID:369035Gene
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Last Updated: Apr 23, 2022