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

Variant : CV245674 (NM_001195800.2(LDLR):c.314-1854_314-1852del) Homo sapiens

Symbol: CV245674
Name: NM_001195800.2(LDLR):c.314-1854_314-1852del
Condition: Familial hypercholesterolemia [RCV000238022]
Clinical Significance: likely 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:0001820)
Source: CLINVAR
Molecular Consequence: inframe_indel|inframe_variant|intron variant
Evidence: literature only
HGVS Name(s): c.632_634del
LRG_274p1:p.His211_Ser212delinsPro
NP_000518.1:p.His211_Ser212delinsPro
NM_001195803.2:c.314-1027_314-1025del
NM_001195800.2:c.314-1854_314-1852del
NM_001195799.2:c.509_511del
LRG_274:g.21158_21160del
LRG_274t1:c.632_634del
NM_000527.4:c.632_634del
NG_009060.1:g.21158_21160del
NM_000527.4:c.632_634del
NM_001195798.2:c.632_634del
NC_000019.10:g.11105538_11105540del
NP_001182728.1:p.His170_Ser171delinsPro
NP_001182727.1:p.His211_Ser212delinsPro
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,538 - 11,105,540CLINVAR
GRCh371911,216,214 - 11,216,216CLINVAR
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: 11525006
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.