NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003318667.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)]
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
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
-
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana liebigii]
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana liebigii]gi|1799734544|gb|QHN70276.1|Protein
-
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana sp. C SH-2019]
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana sp. C SH-2019]gi|1799734680|gb|QHN70344.1|Protein
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receptor-type tyrosine-protein phosphatase S isoform X7 [Homo sapiens]
receptor-type tyrosine-protein phosphatase S isoform X7 [Homo sapiens]gi|2462566619|ref|XP_054177586.1|Protein
-
Chain r, MERS S
Chain r, MERS Sgi|1938950542|pdb|5W9H|rProtein
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Last Updated: Sep 29, 2024