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Variant : CV348914 (NM_005603.6(ATP8B1):c.1029+5T>C) Homo sapiens

Symbol: CV348914
Name: NM_005603.6(ATP8B1):c.1029+5T>C
Condition: Familial Intrahepatic Cholestasis [RCV000309478]|not specified [RCV000591681]
Clinical Significance: uncertain significance
Last Evaluated: 12/19/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_1205t1:c.1029+5T>C
NC_000018.10:g.57694577A>G
NC_000018.9:g.55361809A>G
NM_005603.4:c.1029+5T>C
NG_007148.3:g.114246T>C
NM_005603.6:c.1029+5T>C
LRG_1205:g.114246T>C
NG_007148.2:g.113519T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,694,577 - 57,694,577CLINVAR
GRCh371855,361,809 - 55,361,809CLINVAR
Cytogenetic Map1818q21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11628814
Created: 2017-01-11
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.