NM_000527.5(LDLR):c.705dup (p.Cys236fs) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- 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:
- RCV000237205.1
Allele description [Variation Report for NM_000527.5(LDLR):c.705dup (p.Cys236fs)]
NM_000527.5(LDLR):c.705dup (p.Cys236fs)
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
-
LOC104443988 [Eucalyptus grandis]
LOC104443988 [Eucalyptus grandis]Gene ID:104443988Gene
-
Tectaria poilanei (0)
Nucleotide
-
Limosilactobacillus reuteri strain 609i 609i_59, whole genome shotgun sequence
Limosilactobacillus reuteri strain 609i 609i_59, whole genome shotgun sequencegi|1231580577|gb|NGPB01000059.1||gn :NGPB01|609i_59Nucleotide
-
Limosilactobacillus reuteri strain 609i 609i_52, whole genome shotgun sequence
Limosilactobacillus reuteri strain 609i 609i_52, whole genome shotgun sequencegi|1231581003|gb|NGPB01000052.1||gn :NGPB01|609i_52Nucleotide
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Limosilactobacillus reuteri strain 609l 609l_60, whole genome shotgun sequence
Limosilactobacillus reuteri strain 609l 609l_60, whole genome shotgun sequencegi|1231580562|gb|NGPA01000057.1||gn :NGPA01|609l_60Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024