NM_000527.5(LDLR):c.1359-3C>T AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely benign (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:
- RCV000237778.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1359-3C>T]
NM_000527.5(LDLR):c.1359-3C>T
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
-
tt41d02.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:2243331 3', mRNA sequence
tt41d02.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:2243331 3', mRNA sequencegi|4739888|gnl|dbEST|2484553|gb|AI6 .1|Nucleotide
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Homo sapiens isolate 086-013 SPANX-A2 (SPANXA2) gene, complete cds
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024