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Variant : CV256691 (NM_005603.6(ATP8B1):c.2855G>A (p.Arg952Gln)) Homo sapiens

Symbol: CV256691
Name: NM_005603.6(ATP8B1):c.2855G>A (p.Arg952Gln)
Condition: Familial Intrahepatic Cholestasis [RCV000361416]|not specified [RCV000242349]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, multiple submitters, no conflicts|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.57655270C>T
NC_000018.9:g.55322502C>T
O43520:p.Arg952Gln
NM_005603.6:c.2855G>A
NG_007148.3:g.153553G>A
NM_005603.4:c.2855G>A
NP_005594.2:p.Arg952Gln
LRG_1205:g.153553G>A
LRG_1205p1:p.Arg952Gln
LRG_1205t1:c.2855G>A
NM_001242804.2:c.140-12736C>T
NG_007148.2:g.152826G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,655,270 - 57,655,270CLINVAR
GRCh371855,322,502 - 55,322,502CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11543356
Created: 2016-10-11
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.