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Variant : CV492892 (NM_005603.6(ATP8B1):c.3589G>T (p.Val1197Leu)) Homo sapiens

Symbol: CV492892
Name: NM_005603.6(ATP8B1):c.3589G>T (p.Val1197Leu)
Condition: not specified [RCV000595604]
Clinical Significance: uncertain significance
Last Evaluated: 04/14/2017
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): NC_000018.9:g.55315887C>A
NC_000018.10:g.57648655C>A
NM_005603.6:c.3589G>T
NG_007148.3:g.160168G>T
NP_005594.2:p.Val1197Leu
LRG_1205t1:c.3589G>T
LRG_1205:g.160168G>T
LRG_1205p1:p.Val1197Leu
NM_001242804.2:c.139+6603C>A
NG_007148.2:g.159441G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,648,655 - 57,648,655CLINVAR
GRCh371855,315,887 - 55,315,887CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13516501
Created: 2018-04-10
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.