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Variant : CV402610 (NM_016492.5(RANGRF):c.437C>T (p.Pro146Leu)) Homo sapiens

Symbol: CV402610
Name: NM_016492.5(RANGRF):c.437C>T (p.Pro146Leu)
Condition: Cardiac arrhythmia [RCV000467051]
Clinical Significance: uncertain significance
Last Evaluated: 07/10/2017
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): NR_135483.2:n.1573G>A
NG_028189.1:g.5938C>T
NC_000017.11:g.8289588C>T
NC_000017.10:g.8192906C>T
NP_057576.2:p.Pro146Leu
NM_001177802.2:c.*27C>T
NM_001320872.1:c.*28G>A
NM_201520.3:c.*28G>A
NM_001330127.2:c.351+174C>T
NM_016492.5:c.437C>T
NR_135484.1:n.1528G>A
NM_016492.4:c.437C>T
NP_001171272.1:p.Pro146Leu
NM_001320871.2:c.*28G>A
NM_001177801.2:c.437C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,588 - 8,289,588CLINVAR
GRCh37178,192,906 - 8,192,906CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12886350
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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