NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002519845.3
Allele description [Variation Report for NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)]
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
Condition(s)
-
Brandtodinium nutricula isolate VFPO14-8 18S ribosomal RNA gene, partial sequenc...
Brandtodinium nutricula isolate VFPO14-8 18S ribosomal RNA gene, partial sequencegi|558705885|gb|KF557494.1|Nucleotide
-
GALNT12 [Balearica regulorum gibbericeps]
GALNT12 [Balearica regulorum gibbericeps]Gene ID:104637447Gene
-
SUCLA2 [Balearica regulorum gibbericeps]
SUCLA2 [Balearica regulorum gibbericeps]Gene ID:104640685Gene
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Last Updated: Sep 29, 2024