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Variant : CV347530 (NM_005603.6(ATP8B1):c.2098-30_2098-24dup) Homo sapiens

Symbol: CV347530
Name: NM_005603.6(ATP8B1):c.2098-30_2098-24dup
Condition: Familial Intrahepatic Cholestasis [RCV000276042]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|intron variant
Evidence: clinical testing
HGVS Name(s): NM_005603.6:c.2098-30_2098-24dup
NG_007148.2:g.139535_139541dup
NG_007148.3:g.140262_140268dup
NC_000018.10:g.57668564_57668570dup
NC_000018.9:g.55335796_55335802dup
NM_005603.4:c.2098-21_2098-15dupTTTTTTT
NM_001242804.2:c.*389_*395dup
NM_005603.4:c.2098-21_2098-15dupTTTTTTT
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,668,555 - 57,668,561CLINVAR
GRCh371855,335,787 - 55,335,793CLINVAR
Cytogenetic Map1818q21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11634787
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.