Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV245565 (NM_001195800.2(LDLR):c.314-2042T>G) Homo sapiens

Symbol: CV245565
Name: NM_001195800.2(LDLR):c.314-2042T>G
Condition: Familial hypercholesterolemia [RCV000237527]
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.444T>G
NM_000527.4:c.444T>G
LRG_274:g.20970T>G
NG_009060.1:g.20970T>G
NC_000019.10:g.11105350T>G
NC_000019.9:g.11216026T>G
c.444T>G
LRG_274p1:p.Cys148Trp
NP_000518.1:p.Cys148Trp
NM_001195803.2:c.314-1215T>G
NM_001195800.2:c.314-2042T>G
NM_001195798.2:c.444T>G
NP_001182728.1:p.Cys107Trp
NM_001195799.2:c.321T>G
NP_001182727.1:p.Cys148Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,350 - 11,105,350CLINVAR
GRCh371911,216,026 - 11,216,026CLINVAR
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: 11524527
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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