NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 23, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000584317.4
Allele description [Variation Report for NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)]
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
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
-
SCV000177441 (1)
ClinVar
-
PREDICTED: pectinesterase QRT1 [Jatropha curcas]
PREDICTED: pectinesterase QRT1 [Jatropha curcas]gi|802588626|ref|XP_012070990.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 1, 2024