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Variant : CV647054 (NM_016492.5(RANGRF):c.58A>T (p.Met20Leu)) Homo sapiens

Symbol: CV647054
Name: NM_016492.5(RANGRF):c.58A>T (p.Met20Leu)
Condition: Cardiac arrhythmia [RCV000822521]
Clinical Significance: uncertain significance
Last Evaluated: 12/28/2018
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.*770T>A
NM_001320871.2:c.43-414T>A
NM_001177801.2:c.58A>T
NM_001177802.2:c.58A>T
NM_001330127.2:c.58A>T
NM_016492.5:c.58A>T
NG_028189.1:g.5196A>T
NC_000017.11:g.8288846A>T
NC_000017.10:g.8192164A>T
NM_016492.4:c.58A>T
NP_001171272.1:p.Met20Leu
NP_001171273.1:p.Met20Leu
NP_001317056.1:p.Met20Leu
NP_057576.2:p.Met20Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,288,846 - 8,288,846CLINVAR
GRCh37178,192,164 - 8,192,164CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14742026
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-07-28
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.