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Variant : CV586639 (NM_005603.6(ATP8B1):c.3494T>A (p.Phe1165Tyr)) Homo sapiens

Symbol: CV586639
Name: NM_005603.6(ATP8B1):c.3494T>A (p.Phe1165Tyr)
Condition: not provided [RCV000731164]
Clinical Significance: uncertain significance
Last Evaluated: 12/26/2017
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_001242804.2:c.139+8352A>T
NG_007148.2:g.157692T>A
LRG_1205t1:c.3494T>A
NM_005603.6:c.3494T>A
LRG_1205:g.158419T>A
NG_007148.3:g.158419T>A
NC_000018.10:g.57650404A>T
NC_000018.9:g.55317636A>T
LRG_1205p1:p.Phe1165Tyr
NP_005594.2:p.Phe1165Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,650,404 - 57,650,404CLINVAR
GRCh371855,317,636 - 55,317,636CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13835381
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-11-05
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.