NM_000527.5(LDLR):c.1118G>T (p.Gly373Val) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000238254.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)]
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)
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
-
Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA
Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNAgi|1519243250|ref|NM_005600.3|Nucleotide
-
Mus musculus suppressor of variegation 3-9 homolog 2 (Drosophila), mRNA (cDNA cl...
Mus musculus suppressor of variegation 3-9 homolog 2 (Drosophila), mRNA (cDNA clone MGC:41074 IMAGE:1330053), complete cdsgi|21432096|gb|BC032960.1|Nucleotide
-
LOC100780527 [Glycine max]
LOC100780527 [Glycine max]Gene ID:100780527Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 1, 2024