NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001179938.4
Allele description [Variation Report for NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser)]
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser)
Condition(s)
-
Vincetoxicum flexuosum var. tenue voucher A.Kidyoo 90 tRNA-Leu (trnL) gene, part...
Vincetoxicum flexuosum var. tenue voucher A.Kidyoo 90 tRNA-Leu (trnL) gene, partial sequence; trnL-trnF intergenic spacer, complete sequence; and tRNA-Phe (trnF) gene, partial sequence; chloroplastgi|2599478944|gb|OP923871.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024