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Variant : CV376874 (NM_016492.5(RANGRF):c.77+5G>A) Homo sapiens

Symbol: CV376874
Name: NM_016492.5(RANGRF):c.77+5G>A
Condition: Cardiac arrhythmia [RCV000476779]|not provided [RCV000434813]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: criteria provided, multiple submitters, no conflicts|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_001320872.1:c.*613C>T
NM_201520.3:c.*746C>T
NM_001320871.2:c.43-438C>T
NM_001177802.2:c.77+5G>A
NM_001330127.2:c.77+5G>A
NM_016492.5:c.77+5G>A
NR_135484.1:n.2070C>T
NG_028189.1:g.5220G>A
NC_000017.11:g.8288870G>A
NC_000017.10:g.8192188G>A
NM_001177801.2:c.77+5G>A
NM_016492.4:c.77+5G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,288,870 - 8,288,870CLINVAR
GRCh37178,192,188 - 8,192,188CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12842652
Created: 2017-04-11
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.