NM_000527.5(LDLR):c.818-2A>G AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002519843.4
Allele description [Variation Report for NM_000527.5(LDLR):c.818-2A>G]
NM_000527.5(LDLR):c.818-2A>G
Condition(s)
-
JGI_CAAN2516.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7688096 5',...
JGI_CAAN2516.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7688096 5', mRNA sequencegi|58650043|gnl|dbEST|27617618|gb|C 99.1|Nucleotide
-
Arteritis
ArteritisINFLAMMATION of any ARTERIES.<br/>MeSH
-
Profile neighbors for GEO Profiles (Select 131517139) (200)
GEO Profiles
-
Homo sapiens BAC clone RP11-703L16 from 2, complete sequence
Homo sapiens BAC clone RP11-703L16 from 2, complete sequencegi|18098530|gb|AC068039.6||gnl|wugs 1-703L16Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024