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

Variant : CV246730 (c.(1845+1_1846-1)_(*2514_?)del) Homo sapiens

Symbol: CV246730
Name: c.(1845+1_1846-1)_(*2514_?)del
Condition: Familial hypercholesterolemia [RCV000237658]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: literature only|research
HGVS Name(s): c.(1845+1_1846-1)_(*2514_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh371911,230,767 - 11,244,506CLINVAR
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: 11524653
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.