NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003235489.1
Allele description [Variation Report for NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)]
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024