NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001049393.11
Allele description [Variation Report for NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)]
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
Condition(s)
-
JGI_CABD1429.fwd NIH_XGC_tropLun1 Xenopus tropicalis cDNA clone IMAGE:7807200 5'...
JGI_CABD1429.fwd NIH_XGC_tropLun1 Xenopus tropicalis cDNA clone IMAGE:7807200 5', mRNA sequencegi|59652660|gnl|dbEST|27784917|gb|D 92.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024