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

Variant : CV246105 (NM_001195798.2(LDLR):c.1329G>A (p.Trp443Ter)) Homo sapiens

Symbol: CV246105
Name: NM_001195798.2(LDLR):c.1329G>A (p.Trp443Ter)
Condition: Familial hypercholesterolemia [RCV000237315]
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: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): LRG_274t1:c.1329G>A
NM_000527.4:c.1329G>A
LRG_274:g.29040G>A
NG_009060.1:g.29040G>A
NC_000019.10:g.11113420G>A
NC_000019.9:g.11224096G>A
c.1329G>A
LRG_274p1:p.Trp443Ter
NP_000518.1:p.Trp443Ter
NM_001195799.2:c.1206G>A
NM_000527.4:c.1329G>A
NM_001195798.2:c.1329G>A
NM_001195800.2:c.825G>A
NM_001195803.2:c.948G>A
NP_001182729.1:p.Trp275Ter
NP_001182732.1:p.Trp316Ter
NP_001182728.1:p.Trp402Ter
NP_001182727.1:p.Trp443Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,420 - 11,113,420CLINVAR
GRCh371911,224,096 - 11,224,096CLINVAR
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: 11524321
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.