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Variant : CV188668 (NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)) Homo sapiens

Symbol: CV188668
Name: NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)
Condition: Cardiac arrhythmia [RCV000459147]|not specified [RCV000171018]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 12/18/2018
Review Status: classified by single submitter|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): NG_028189.1:g.5190C>T
NC_000017.11:g.8288840C>T
NC_000017.10:g.8192158C>T
NP_057576.2:p.Leu18Phe
NM_201520.3:c.*776G>A
NM_001320871.2:c.43-408G>A
NM_001177801.2:c.52C>T
NM_016492.5:c.52C>T
NM_016492.4:c.52C>T
NP_001171272.1:p.Leu18Phe
NP_001171273.1:p.Leu18Phe
NM_001177802.2:c.52C>T
NP_001317056.1:p.Leu18Phe
NM_001330127.2:c.52C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,288,840 - 8,288,840CLINVAR
GRCh37178,192,158 - 8,192,158CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; EXTRASYSTOLES



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10044680
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.