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Variant : CV243021 (NM_016492.5(RANGRF):c.81C>T (p.Asp27=)) Homo sapiens

Symbol: CV243021
Name: NM_016492.5(RANGRF):c.81C>T (p.Asp27=)
Condition: Cardiac arrhythmia [RCV000230116]
Clinical Significance: benign
Last Evaluated: 02/13/2019
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|synonymous variant
Evidence: clinical testing
HGVS Name(s): NP_001171272.1:p.Asp27=
NP_001171273.1:p.Asp27=
NP_001317056.1:p.Asp27=
NG_028189.1:g.5309C>T
NC_000017.11:g.8288959C>T
NC_000017.10:g.8192277C>T
NP_057576.2:p.Asp27=
NM_201520.3:c.*657G>A
NM_001320871.2:c.43-527G>A
NM_001177801.2:c.81C>T
NM_001177802.2:c.81C>T
NM_001330127.2:c.81C>T
NM_016492.5:c.81C>T
NR_135484.1:n.1981G>A
NM_001320872.1:c.*524G>A
NM_016492.4:c.81C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,288,959 - 8,288,959CLINVAR
GRCh37178,192,277 - 8,192,277CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11346880
Created: 2016-07-12
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.