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Variant : CV376870 (NM_016492.5(RANGRF):c.27G>C (p.Leu9=)) Homo sapiens

Symbol: CV376870
Name: NM_016492.5(RANGRF):c.27G>C (p.Leu9=)
Condition: Cardiac arrhythmia [RCV000547073]|not specified [RCV000424447]
Clinical Significance: likely benign
Last Evaluated: 01/02/2019
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|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_028189.1:g.5165G>C
NC_000017.11:g.8288815G>C
NC_000017.10:g.8192133G>C
NP_057576.2:p.Leu9=
NM_001177801.2:c.27G>C
NM_001177802.2:c.27G>C
NM_201520.3:c.*801C>G
NM_001330127.2:c.27G>C
NM_016492.5:c.27G>C
NM_001320871.2:c.43-383C>G
NM_016492.4:c.27G>C
NP_001171272.1:p.Leu9=
NP_001171273.1:p.Leu9=
NP_001317056.1:p.Leu9=
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,288,815 - 8,288,815CLINVAR
GRCh37178,192,133 - 8,192,133CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12837026
Created: 2017-04-11
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.