NM_000527.5(LDLR):c.580A>G (p.Ser194Gly) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004002901.2
Allele description [Variation Report for NM_000527.5(LDLR):c.580A>G (p.Ser194Gly)]
NM_000527.5(LDLR):c.580A>G (p.Ser194Gly)
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
-
deneddylase [Arabidopsis thaliana]
deneddylase [Arabidopsis thaliana]gi|30690476|ref|NP_174175.2|Protein
-
DC156652 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst80o...
DC156652 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst80o18 3', mRNA sequencegi|119139255|gnl|dbEST|43404209|dbj 6652.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024