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

Variant : CV619782 (NM_000527.4(LDLR):c.1988-13T>C) 

Symbol: CV619782
Name: NM_000527.4(LDLR):c.1988-13T>C
Condition: Familial hypercholesterolemias [RCV000772359]
Clinical Significance: likely benign
Last Evaluated: 03/23/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_009060.1:g.35977T>C
NC_000019.10:g.11120357T>C
LRG_274t1:c.1988-13T>C
NM_000527.4:c.1988-13T>C
LRG_274:g.35977T>C
NC_000019.9:g.11231033T>C
NM_001195800.2:c.1484-13T>C
NM_001195803.2:c.1606+124T>C
NM_001195799.2:c.1865-13T>C
NM_001195798.2:c.1988-13T>C
Position
AssemblyChrPosition (strand)Source
GRCh381911,120,357 - 11,120,357CLINVAR
GRCh371911,231,033 - 11,231,033CLINVAR
Cytogenetic Map1919p13.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14691719
Created: 2019-06-11
Species:
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.