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Variant : CV271041 (NM_005603.6(ATP8B1):c.3059T>C (p.Ile1020Thr)) Homo sapiens

Symbol: CV271041
Name: NM_005603.6(ATP8B1):c.3059T>C (p.Ile1020Thr)
Condition: Familial Intrahepatic Cholestasis [RCV000335042]|not specified [RCV000347420]
Clinical Significance: uncertain significance
Last Evaluated: 09/29/2017
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57652686A>G
NC_000018.9:g.55319918A>G
NM_005603.6:c.3059T>C
NG_007148.3:g.156137T>C
NM_005603.4:c.3059T>C
NP_005594.2:p.Ile1020Thr
LRG_1205t1:c.3059T>C
LRG_1205:g.156137T>C
LRG_1205p1:p.Ile1020Thr
NM_001242804.2:c.139+10634A>G
NG_007148.2:g.155410T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,652,686 - 57,652,686CLINVAR
GRCh371855,319,918 - 55,319,918CLINVAR
Cytogenetic Map1818q21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11580494
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.