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Variant : CV246122 (NM_000527.4(LDLR):c.1359-5C>G) Homo sapiens

Symbol: CV246122
Name: NM_000527.4(LDLR):c.1359-5C>G
Condition: Familial hypercholesterolemia - homozygous [RCV000844742]|Familial hypercholesterolemia [RCV000238316]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 10/31/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR   MIR6886  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only|research
HGVS Name(s): NM_001195799.2:c.1236-5C>G
NM_001195798.2:c.1359-5C>G
NM_001195803.2:c.978-5C>G
NC_000019.9:g.11224206C>G
NR_106946.1:n.57C>G
LRG_274t1:c.1359-5C>G
NM_000527.4:c.1359-5C>G
LRG_274:g.29150C>G
NG_009060.1:g.29150C>G
NC_000019.10:g.11113530C>G
NC_000019.9:g.11224206C>G
c.1359-5C>G
NM_001195800.2:c.855-5C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,530 - 11,113,530CLINVAR
GRCh371911,224,206 - 11,224,206CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: Fredrickson type IIa hyperlipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, 1; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; LDL RECEPTOR DISORDER
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11525289
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.