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

Variant : CV587266 (NM_005603.6(ATP8B1):c.2771A>G (p.Tyr924Cys)) Homo sapiens

Symbol: CV587266
Name: NM_005603.6(ATP8B1):c.2771A>G (p.Tyr924Cys)
Condition: not provided [RCV000731957]
Clinical Significance: uncertain significance
Last Evaluated: 02/21/2018
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): NG_007148.2:g.152742A>G
LRG_1205t1:c.2771A>G
NM_005603.6:c.2771A>G
LRG_1205:g.153469A>G
NG_007148.3:g.153469A>G
NC_000018.10:g.57655354T>C
NC_000018.9:g.55322586T>C
LRG_1205p1:p.Tyr924Cys
NP_005594.2:p.Tyr924Cys
NM_001242804.2:c.140-12652T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,655,354 - 57,655,354CLINVAR
GRCh371855,322,586 - 55,322,586CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13836000
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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