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

Variant : CV245771 (NM_001195800.2(LDLR):c.314-764G>C) Homo sapiens

Symbol: CV245771
Name: NM_001195800.2(LDLR):c.314-764G>C
Condition: Familial hypercholesterolemia [RCV000238279]
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.758G>C
NM_000527.4:c.758G>C
LRG_274:g.22248G>C
NG_009060.1:g.22248G>C
NC_000019.10:g.11106628G>C
NC_000019.9:g.11217304G>C
c.758G>C
LRG_274p1:p.Arg253Pro
NP_000518.1:p.Arg253Pro
NM_001195798.2:c.758G>C
NP_001182732.1:p.Arg126Pro
NP_001182728.1:p.Arg212Pro
NM_001195800.2:c.314-764G>C
NM_001195803.2:c.377G>C
NM_001195799.2:c.635G>C
NP_001182727.1:p.Arg253Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,106,628 - 11,106,628CLINVAR
GRCh371911,217,304 - 11,217,304CLINVAR
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: 11525254
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.