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Variant : CV269766 (NM_016492.5(RANGRF):c.268T>C (p.Leu90=)) Homo sapiens

Symbol: CV269766
Name: NM_016492.5(RANGRF):c.268T>C (p.Leu90=)
Condition: Cardiac arrhythmia [RCV000460683]|not specified [RCV000272471]
Clinical Significance: benign
Last Evaluated: 03/05/2019
Review Status: criteria provided, multiple submitters, no conflicts|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.5681T>C
NC_000017.11:g.8289331T>C
NC_000017.10:g.8192649T>C
NP_057576.2:p.Leu90=
NM_001320872.1:c.*152A>G
NM_201520.3:c.*285A>G
NM_001177801.2:c.268T>C
NM_001330127.2:c.268T>C
NM_016492.5:c.268T>C
NM_001320871.2:c.42+243A>G
NR_135484.1:n.1609A>G
NM_016492.4:c.268T>C
NP_001171272.1:p.Leu90=
NP_001171273.1:p.Leu90=
NP_001317056.1:p.Leu90=
NM_001177802.2:c.268T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,289,331 - 8,289,331CLINVAR
GRCh37178,192,649 - 8,192,649CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; EXTRASYSTOLES



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11636651
Created: 2017-01-11
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.