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Variant : CV342152 (NM_005603.6(ATP8B1):c.*888C>G) Homo sapiens

Symbol: CV342152
Name: NM_005603.6(ATP8B1):c.*888C>G
Condition: Familial Intrahepatic Cholestasis [RCV000288218]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57647600G>C
NC_000018.9:g.55314832G>C
NM_005603.4:c.*888C>G
NM_005603.6:c.*888C>G
NG_007148.3:g.161223C>G
LRG_1205t1:c.*888C>G
LRG_1205:g.161223C>G
NM_001242804.2:c.139+5548G>C
NG_007148.2:g.160496C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,647,600 - 57,647,600CLINVAR
GRCh371855,314,832 - 55,314,832CLINVAR
Cytogenetic Map1818q21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11615675
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.