NM_000527.5(LDLR):c.1934dup (p.Asn645fs) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Mar 30, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000237207.5
Allele description [Variation Report for NM_000527.5(LDLR):c.1934dup (p.Asn645fs)]
NM_000527.5(LDLR):c.1934dup (p.Asn645fs)
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
-
RecName: Full=Palmitoyltransferase ZDHHC20; AltName: Full=Acyltransferase ZDHHC2...
RecName: Full=Palmitoyltransferase ZDHHC20; AltName: Full=Acyltransferase ZDHHC20; AltName: Full=DHHC domain-containing cysteine-rich protein 20; Short=DHHC20; AltName: Full=Zinc finger DHHC domain-containing protein 20gi|74748004|sp|Q5W0Z9.1|ZDH20_HUMANProtein
-
cpsf2 cleavage and polyadenylation specific factor 2 [Danio rerio]
cpsf2 cleavage and polyadenylation specific factor 2 [Danio rerio]Gene ID:436657Gene
-
Gene Links for GEO Profiles (Select 131544893) (1)
Gene
-
NINJ1 ninjurin 1 [Homo sapiens]
NINJ1 ninjurin 1 [Homo sapiens]Gene ID:4814Gene
-
Homologene neighbors for GEO Profiles (Select 131544893) (0)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024