NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000497022.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)]
NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
-
ATP synthase beta subunit, partial (chloroplast) [Draba crassifolia]
ATP synthase beta subunit, partial (chloroplast) [Draba crassifolia]gi|1802797964|gb|QHR80827.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024