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Variant : CV584625 (NM_005603.6(ATP8B1):c.3478G>A (p.Val1160Ile)) Homo sapiens

Symbol: CV584625
Name: NM_005603.6(ATP8B1):c.3478G>A (p.Val1160Ile)
Condition: not provided [RCV000728642]
Clinical Significance: uncertain significance
Last Evaluated: 08/08/2017
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): NG_007148.2:g.157676G>A
LRG_1205t1:c.3478G>A
NM_005603.6:c.3478G>A
LRG_1205:g.158403G>A
NG_007148.3:g.158403G>A
NC_000018.10:g.57650420C>T
NC_000018.9:g.55317652C>T
LRG_1205p1:p.Val1160Ile
NP_005594.2:p.Val1160Ile
NM_001242804.2:c.139+8368C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,650,420 - 57,650,420CLINVAR
GRCh371855,317,652 - 55,317,652CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13833392
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.