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

Variant : CV647055 (NM_016492.5(RANGRF):c.389G>A (p.Arg130Lys)) Homo sapiens

Symbol: CV647055
Name: NM_016492.5(RANGRF):c.389G>A (p.Arg130Lys)
Condition: Cardiac arrhythmia [RCV000800738]
Clinical Significance: uncertain significance
Last Evaluated: 09/24/2018
Review Status: criteria provided, single submitter
Related Genes: RANGRF   SLC25A35  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_201520.3:c.*76C>T
NM_001330127.2:c.351+126G>A
NM_001177801.2:c.389G>A
NM_016492.5:c.389G>A
NM_001320871.2:c.42+34C>T
NM_001320872.1:c.42+34C>T
NM_001177802.2:c.477G>A
NG_028189.1:g.5890G>A
NC_000017.11:g.8289540G>A
NC_000017.10:g.8192858G>A
NM_016492.4:c.389G>A
NP_001171272.1:p.Arg130Lys
NP_057576.2:p.Arg130Lys
NP_001171273.1:p.Glu159=
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,540 - 8,289,540CLINVAR
GRCh37178,192,858 - 8,192,858CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14729917
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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