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Variant : CV846654 (NM_016492.5(RANGRF):c.535G>A (p.Asp179Asn)) Homo sapiens

Symbol: CV846654
Name: NM_016492.5(RANGRF):c.535G>A (p.Asp179Asn)
Condition: Cardiac arrhythmia [RCV001048906]
Clinical Significance: uncertain significance
Last Evaluated: 12/19/2019
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_001177801.2:c.*318G>A
NM_001177802.2:c.*349G>A
NM_001330127.2:c.*92G>A
NM_016492.5:c.535G>A
NR_135483.2:n.1461C>T
NP_958928.1:p.Ile268=
NM_001320871.2:c.804C>T
NM_001320872.1:c.804C>T
NM_201520.3:c.804C>T
NG_028189.1:g.6260G>A
NC_000017.11:g.8289910G>A
NC_000017.10:g.8193228G>A
NR_135484.1:n.1416C>T
NM_016492.4:c.535G>A
NP_057576.2:p.Asp179Asn
NP_001307800.1:p.Ile268=
NP_001307801.1:p.Ile268=
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,910 - 8,289,910CLINVAR
GRCh37178,193,228 - 8,193,228CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26898468
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.