NM_000527.5(LDLR):c.1065C>T (p.Ile355=) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004017842.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1065C>T (p.Ile355=)]
NM_000527.5(LDLR):c.1065C>T (p.Ile355=)
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
-
PXYLP1 [Chlamydotis macqueenii]
PXYLP1 [Chlamydotis macqueenii]Gene ID:104473176Gene
-
LOC5503191 [Nematostella vectensis]
LOC5503191 [Nematostella vectensis]Gene ID:5503191Gene
-
Mog myelin oligodendrocyte glycoprotein [Rattus norvegicus]
Mog myelin oligodendrocyte glycoprotein [Rattus norvegicus]Gene ID:24558Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024