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Variant : CV425025 (NM_001195799.2(LDLR):c.190+2373G>C) Homo sapiens

Symbol: CV425025
Name: NM_001195799.2(LDLR):c.190+2373G>C
Condition: Familial hypercholesterolemia [RCV000497224]
Clinical Significance: uncertain significance
Last Evaluated: 03/01/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NM_001195800.2:c.245G>C
NM_001195803.2:c.245G>C
NM_001195799.2:c.190+2373G>C
NM_000527.4:c.245G>C
NM_001195798.2:c.245G>C
LRG_274t1:c.245G>C
NM_000527.4:c.245G>C
LRG_274:g.18338G>C
NG_009060.1:g.18338G>C
NC_000019.10:g.11102718G>C
NC_000019.9:g.11213394G>C
LRG_274p1:p.Cys82Ser
NP_000518.1:p.Cys82Ser
NP_001182732.1:p.Cys82Ser
NP_001182727.1:p.Cys82Ser
NP_001182729.1:p.Cys82Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,102,718 - 11,102,718CLINVAR
GRCh371911,213,394 - 11,213,394CLINVAR
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: 13211320
Created: 2017-09-12
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.