NM_000527.5(LDLR):c.557del (p.Gly186fs) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002518479.3
Allele description [Variation Report for NM_000527.5(LDLR):c.557del (p.Gly186fs)]
NM_000527.5(LDLR):c.557del (p.Gly186fs)
Condition(s)
-
Scalesia crockeri voucher Rivas-Torres 336 (QUSF) internal transcribed spacer 1,...
Scalesia crockeri voucher Rivas-Torres 336 (QUSF) internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1808499270|gb|MT044173.1|Nucleotide
-
HS2ST1 [Protobothrops mucrosquamatus]
HS2ST1 [Protobothrops mucrosquamatus]Gene ID:107290888Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024