NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002429178.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)]
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
61467[uid] (1)
Taxonomy
-
homeobox protein SIX1 isoform 1 [Homo sapiens]
homeobox protein SIX1 isoform 1 [Homo sapiens]gi|5174681|ref|NP_005973.1|Protein
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Last Updated: Sep 1, 2024