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Variant : CV331904 (NM_005603.6(ATP8B1):c.*2015del) Homo sapiens

Symbol: CV331904
Name: NM_005603.6(ATP8B1):c.*2015del
Condition: Familial Intrahepatic Cholestasis [RCV000403606]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001242804.2:c.139+4427del
LRG_1205:g.162350del
NG_007148.2:g.161623del
NG_007148.3:g.162350del
NC_000018.10:g.57646479del
NC_000018.9:g.55313711del
NM_005603.4:c.*2015delA
LRG_1205t1:c.*2015del
NM_005603.6:c.*2015del
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,646,473 - 57,646,473CLINVAR
GRCh371855,313,705 - 55,313,705CLINVAR
Cytogenetic Map1818q21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11625819
Created: 2017-01-11
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.