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Variant : CV846653 (NM_016492.5(RANGRF):c.194G>T (p.Arg65Leu)) Homo sapiens

Symbol: CV846653
Name: NM_016492.5(RANGRF):c.194G>T (p.Arg65Leu)
Condition: Cardiac arrhythmia [RCV001043948]
Clinical Significance: uncertain significance
Last Evaluated: 12/20/2019
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
Evidence: clinical testing
HGVS Name(s): NM_001320871.2:c.*42+502C>A
NM_001177802.2:c.194G>T
NM_001330127.2:c.194G>T
NC_000017.10:g.8192390G>T
NR_135483.2:n.2089C>A
NM_001320872.1:c.*411C>A
NR_135484.1:n.1868C>A
NP_057576.2:p.Arg65Leu
NM_016492.5:c.194G>T
NG_028189.1:g.5422G>T
NM_016492.4:c.194G>T
NP_001171272.1:p.Arg65Leu
NP_001171273.1:p.Arg65Leu
NP_001317056.1:p.Arg65Leu
NM_201520.3:c.*544C>A
NM_001177801.2:c.194G>T
NC_000017.11:g.8289072G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,072 - 8,289,072CLINVAR
GRCh37178,192,390 - 8,192,390CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26886055
Created: 2020-05-12
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.