NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) AND LDLR-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003897580.2
Allele description [Variation Report for NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)]
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)
Condition(s)
- Name:
- LDLR-related disorder
- Synonyms:
- LDLR-related condition
- Identifiers:
-
UBA-like domain-containing protein 2 [Homo sapiens]
UBA-like domain-containing protein 2 [Homo sapiens]gi|32698954|ref|NP_872371.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024