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

Variant : CV245314 (NM_000527.4(LDLR):c.-142C>T) Homo sapiens

Symbol: CV245314
Name: NM_000527.4(LDLR):c.-142C>T
Condition: Familial hypercholesterolemia [RCV000237468]
Clinical Significance: uncertain significance
Last Evaluated: 03/25/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR   LDLR-AS1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: curation|literature only
HGVS Name(s): LRG_274t1:c.-142C>T
NM_000527.4:c.-142C>T
LRG_274:g.5027C>T
NG_009060.1:g.5027C>T
NC_000019.10:g.11089407C>T
NC_000019.9:g.11200083C>T
c.-142C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,089,407 - 11,089,407CLINVAR
GRCh371911,200,083 - 11,200,083CLINVAR
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: 11524469
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.