NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001840429.2
Allele description [Variation Report for NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)]
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
alpha-actinin-1 isoform a [Homo sapiens]
alpha-actinin-1 isoform a [Homo sapiens]gi|194097350|ref|NP_001123476.1|Protein
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Last Updated: May 7, 2024