NM_000527.5(LDLR):c.2022dup (p.Gly675fs) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813913.1
Allele description [Variation Report for NM_000527.5(LDLR):c.2022dup (p.Gly675fs)]
NM_000527.5(LDLR):c.2022dup (p.Gly675fs)
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
-
Bupleurum australe (0)
dbVar
-
Physcomitrium patens ecotype Gransden 2004 chromosome 16, whole genome shotgun s...
Physcomitrium patens ecotype Gransden 2004 chromosome 16, whole genome shotgun sequencegi|2809064952|gb|CM009331.2||gnl|WG U|Chr16Nucleotide
-
Physcomitrium patens ecotype Gransden 2004 chromosome 18, whole genome shotgun s...
Physcomitrium patens ecotype Gransden 2004 chromosome 18, whole genome shotgun sequencegi|2809064950|gb|CM009333.2||gnl|WG U|Chr18Nucleotide
-
pyruvate kinase, partial [Streptococcus dysgalactiae subsp. equisimilis]
pyruvate kinase, partial [Streptococcus dysgalactiae subsp. equisimilis]gi|373883429|gb|AEY79046.1|Protein
-
MIRN503 AND (alive[prop]) (2)
Gene
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Last Updated: Dec 24, 2023