NM_000527.5(LDLR):c.1964del (p.Phe655fs) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001056676.7
Allele description [Variation Report for NM_000527.5(LDLR):c.1964del (p.Phe655fs)]
NM_000527.5(LDLR):c.1964del (p.Phe655fs)
Condition(s)
-
CHGA [Aquila chrysaetos chrysaetos]
CHGA [Aquila chrysaetos chrysaetos]Gene ID:115335197Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024