NM_000527.5(LDLR):c.2389+19C>T AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003740721.1
Allele description [Variation Report for NM_000527.5(LDLR):c.2389+19C>T]
NM_000527.5(LDLR):c.2389+19C>T
Condition(s)
-
Mus musculus adult male corpus striatum cDNA, RIKEN full-length enriched library...
Mus musculus adult male corpus striatum cDNA, RIKEN full-length enriched library, clone:C030013G15 product:weakly similar to TRANSCRIPTION FACTOR IIIC90 [Homo sapiens], full insert sequencegi|26338917|dbj|AK047698.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024