Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV347535 (NM_005603.6(ATP8B1):c.1711G>A (p.Ala571Thr)) Homo sapiens

Symbol: CV347535
Name: NM_005603.6(ATP8B1):c.1711G>A (p.Ala571Thr)
Condition: Familial Intrahepatic Cholestasis [RCV000283339]|not provided [RCV000730370]
Clinical Significance: uncertain significance
Last Evaluated: 06/05/2018
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_007148.2:g.133154G>A
NC_000018.10:g.57674942C>T
NC_000018.9:g.55342174C>T
NM_005603.4:c.1711G>A
NP_005594.2:p.Ala571Thr
NG_007148.3:g.133881G>A
NM_005603.6:c.1711G>A
LRG_1205t1:c.1711G>A
LRG_1205:g.133881G>A
LRG_1205p1:p.Ala571Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,674,942 - 57,674,942CLINVAR
GRCh371855,342,174 - 55,342,174CLINVAR
Cytogenetic Map1818q21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11627515
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.