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Variant : CV532114 (NM_016492.5(RANGRF):c.172G>A (p.Val58Ile)) Homo sapiens

Symbol: CV532114
Name: NM_016492.5(RANGRF):c.172G>A (p.Val58Ile)
Condition: Cardiac arrhythmia [RCV000653725]
Clinical Significance: likely benign
Last Evaluated: 09/12/2017
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|missense variant
Evidence: clinical testing
HGVS Name(s): NM_001177801.2:c.172G>A
NM_001177802.2:c.172G>A
NP_001317056.1:p.Val58Ile
NM_001320871.2:c.42+524C>T
NR_135484.1:n.1890C>T
NM_016492.4:c.172G>A
NP_001171272.1:p.Val58Ile
NP_001171273.1:p.Val58Ile
NG_028189.1:g.5400G>A
NC_000017.11:g.8289050G>A
NC_000017.10:g.8192368G>A
NP_057576.2:p.Val58Ile
NM_001320872.1:c.*433C>T
NM_201520.3:c.*566C>T
NM_001330127.2:c.172G>A
NM_016492.5:c.172G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,050 - 8,289,050CLINVAR
GRCh37178,192,368 - 8,192,368CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13625605
Created: 2018-06-12
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.