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

Variant : CV403204 (NM_016492.5(RANGRF):c.434C>T (p.Pro145Leu)) Homo sapiens

Symbol: CV403204
Name: NM_016492.5(RANGRF):c.434C>T (p.Pro145Leu)
Condition: Cardiac arrhythmia [RCV000460730]
Clinical Significance: uncertain significance
Last Evaluated: 02/10/2017
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|intron variant
Evidence: clinical testing
HGVS Name(s): NM_016492.5:c.434C>T
NR_135484.1:n.1531G>A
NM_016492.4:c.434C>T
NG_028189.1:g.5935C>T
NC_000017.11:g.8289585C>T
NC_000017.10:g.8192903C>T
NP_057576.2:p.Pro145Leu
NM_001177802.2:c.*24C>T
NM_001320872.1:c.*31G>A
NM_201520.3:c.*31G>A
NM_001177801.2:c.434C>T
NP_001171272.1:p.Pro145Leu
NM_001330127.2:c.351+171C>T
NM_001320871.2:c.*31G>A
NR_135483.2:n.1576G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,585 - 8,289,585CLINVAR
GRCh37178,192,903 - 8,192,903CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12883001
Created: 2017-05-09
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.