NM_000527.5(LDLR):c.1497T>C (p.Ser499=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003021994.3
Allele description [Variation Report for NM_000527.5(LDLR):c.1497T>C (p.Ser499=)]
NM_000527.5(LDLR):c.1497T>C (p.Ser499=)
Condition(s)
-
Galium verum voucher WYJ202008036 maturase K (matK) gene, partial cds; chloropla...
Galium verum voucher WYJ202008036 maturase K (matK) gene, partial cds; chloroplastgi|2426305088|gb|MW417733.1|Nucleotide
-
Galium verum tRNA-His (trnH) gene, partial sequence; and photosystem II protein ...
Galium verum tRNA-His (trnH) gene, partial sequence; and photosystem II protein D1 (psbA) gene, partial cds; chloroplastgi|2800970107|gb|PQ189095.1|Nucleotide
-
Spermatophyta psbA-trnH intergenic spacer region, partial sequence; chloroplast.
Spermatophyta psbA-trnH intergenic spacer region, partial sequence; chloroplast.PopSet: 2593740813PopSet
-
Cladosporium translation elongation factor 1-alpha (Tef) gene, partial cds.
Cladosporium translation elongation factor 1-alpha (Tef) gene, partial cds.PopSet: 946525701PopSet
-
plecb plectin b [Danio rerio]
plecb plectin b [Danio rerio]Gene ID:567310Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024