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Variant : CV245765 (NM_001195800.2(LDLR):c.314-779G>A) Homo sapiens

Symbol: CV245765
Name: NM_001195800.2(LDLR):c.314-779G>A
Condition: Familial hypercholesterolemia [RCV000237638]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.743G>A
NM_000527.4:c.743G>A
LRG_274:g.22233G>A
NG_009060.1:g.22233G>A
NC_000019.10:g.11106613G>A
NC_000019.9:g.11217289G>A
c.743G>A
LRG_274p1:p.Cys248Tyr
NP_000518.1:p.Cys248Tyr
P01130:p.Cys248Tyr
NM_001195800.2:c.314-779G>A
NM_001195803.2:c.362G>A
NM_001195799.2:c.620G>A
NM_001195798.2:c.743G>A
NP_001182732.1:p.Cys121Tyr
NP_001182728.1:p.Cys207Tyr
NP_001182727.1:p.Cys248Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,106,613 - 11,106,613CLINVAR
GRCh371911,217,289 - 11,217,289CLINVAR
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: 11524635
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.