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Variant : CV142592 (NM_016492.5(RANGRF):c.510G>A (p.Gln170=)) Homo sapiens

Symbol: CV142592
Name: NM_016492.5(RANGRF):c.510G>A (p.Gln170=)
Condition: Cardiac arrhythmia [RCV000226092]|not specified [RCV000127717]
Clinical Significance: benign
Last Evaluated: 12/31/2018
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|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_028189.1:g.6235G>A
NC_000017.11:g.8289885G>A
NC_000017.10:g.8193203G>A
NP_057576.2:p.Gln170=
NM_001177801.2:c.*293G>A
NM_001177802.2:c.*324G>A
NM_001330127.2:c.*67G>A
NM_016492.5:c.510G>A
NM_001320871.2:c.829C>T
NM_001320872.1:c.829C>T
NM_001177801.1:c.*293G>A
NM_016492.4:c.510G>A
NP_001307800.1:p.Leu277=
NP_001307801.1:p.Leu277=
NP_958928.1:p.Leu277=
NR_135484.1:n.1441C>T
NM_201520.3:c.829C>T
NR_135483.2:n.1486C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,885 - 8,289,885CLINVAR
GRCh37178,193,203 - 8,193,203CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; EXTRASYSTOLES



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8692625
Created: 2014-07-08
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.