NM_000527.5(LDLR):c.1950G>A (p.Glu650=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002156847.6
Allele description [Variation Report for NM_000527.5(LDLR):c.1950G>A (p.Glu650=)]
NM_000527.5(LDLR):c.1950G>A (p.Glu650=)
Condition(s)
-
606385 (1)
OMIM
-
142963 (1)
OMIM
-
239510 (1)
OMIM
-
paired box protein Pax-6 isoform a [Homo sapiens]
paired box protein Pax-6 isoform a [Homo sapiens]gi|4505615|ref|NP_000271.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024