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Variant : CV188670 (NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)) Homo sapiens

Symbol: CV188670
Name: NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)
Condition: Cardiac arrhythmia [RCV001079252]|not provided [RCV000845313]|not specified [RCV000171022]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 12/31/2019
Review Status: classified by single submitter|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|nonsense
Evidence: clinical testing
HGVS Name(s): NG_028189.1:g.5409G>T
NC_000017.11:g.8289059G>T
NC_000017.10:g.8192377G>T
NP_057576.2:p.Glu61Ter
NM_201520.3:c.*557C>A
NM_001177801.2:c.181G>T
NM_001177802.2:c.181G>T
NM_016492.5:c.181G>T
NM_001320871.2:c.42+515C>A
NM_001330127.2:c.181G>T
NM_001320872.1:c.*424C>A
NR_135484.1:n.1881C>A
NM_016492.4:c.181G>T
NP_001171272.1:p.Glu61Ter
NP_001171273.1:p.Glu61Ter
NP_001317056.1:p.Glu61Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,059 - 8,289,059CLINVAR
GRCh37178,192,377 - 8,192,377CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; EXTRASYSTOLES



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10044683
Created: 2015-06-09
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.