NM_000527.5(LDLR):c.2481C>T (p.Val827=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001180535.4
Allele description [Variation Report for NM_000527.5(LDLR):c.2481C>T (p.Val827=)]
NM_000527.5(LDLR):c.2481C>T (p.Val827=)
Condition(s)
-
C3HC4-type RING finger protein [Arabidopsis thaliana]
C3HC4-type RING finger protein [Arabidopsis thaliana]gi|15229186|ref|NP_189880.1|Protein
-
RNA-binding motif, single-stranded-interacting protein 1 isoform a [Homo sapiens...
RNA-binding motif, single-stranded-interacting protein 1 isoform a [Homo sapiens]gi|8400718|ref|NP_058520.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024