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

Variant : CV342639 (NM_000527.4(LDLR):c.*420C>A) Homo sapiens

Symbol: CV342639
Name: NM_000527.4(LDLR):c.*420C>A
Condition: Familial hypercholesterolemia [RCV000355666]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.*420C>A
NM_000527.4:c.*420C>A
LRG_274:g.47356C>A
NG_009060.1:g.47356C>A
NC_000019.10:g.11131736C>A
NC_000019.9:g.11242412C>A
NM_001195798.2:c.*420C>A
NM_001195799.2:c.*420C>A
NM_001195800.2:c.*420C>A
NM_001195803.2:c.*420C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,131,736 - 11,131,736CLINVAR
GRCh371911,242,412 - 11,242,412CLINVAR
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

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11622042
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.