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

Variant : CV224542 (NM_001943.5(DSG2):c.2664C>A (p.Phe888Leu)) Homo sapiens

Symbol: CV224542
Name: NM_001943.5(DSG2):c.2664C>A (p.Phe888Leu)
Condition: Long QT syndrome [RCV000208481]
Clinical Significance: uncertain significance
Last Evaluated: 04/22/2015
Review Status: criteria provided, single submitter
Related Genes: DSG2   DSG2-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_397:g.52809C>A
NG_007072.3:g.52809C>A
NC_000018.10:g.31546050C>A
NC_000018.9:g.29126013C>A
NM_001943.3:c.2664C>A
NP_001934.2:p.Phe888Leu
LRG_397t1:c.2664C>A
NM_001943.5:c.2664C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381831,546,050 - 31,546,050CLINVAR
GRCh371829,126,013 - 29,126,013CLINVAR
Cytogenetic Map1818q12.1CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11040155
Created: 2016-03-08
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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