NM_000527.5(LDLR):c.1182del (p.Val395fs) AND Hypercholesterolemia, familial, 1
- Germline classification:
- 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:
- RCV000238075.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1182del (p.Val395fs)]
NM_000527.5(LDLR):c.1182del (p.Val395fs)
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
-
ALOX15B [Equus asinus]
ALOX15B [Equus asinus]Gene ID:106844231Gene
-
LOC100229734 [Taeniopygia guttata]
LOC100229734 [Taeniopygia guttata]Gene ID:100229734Gene
-
GPC6 [Taeniopygia guttata]
GPC6 [Taeniopygia guttata]Gene ID:100230403Gene
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023