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Variant : CV192765 (NM_005603.6(ATP8B1):c.2358G>A (p.Val786=)) Homo sapiens

Symbol: CV192765
Name: NM_005603.6(ATP8B1):c.2358G>A (p.Val786=)
Condition: not specified [RCV000176211]
Clinical Significance: uncertain significance
Last Evaluated: 10/12/2017
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57662543C>T
NC_000018.9:g.55329775C>T
NM_005603.6:c.2358G>A
NP_005594.2:p.Val786=
NG_007148.3:g.146280G>A
LRG_1205:g.146280G>A
LRG_1205t1:c.2358G>A
LRG_1205p1:p.Val786=
NM_001242804.2:c.140-5463C>T
NG_007148.2:g.145553G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,662,543 - 57,662,543CLINVAR
GRCh371855,329,775 - 55,329,775CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10050986
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-11-12
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.