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

Variant : CV376022 (NM_005603.6(ATP8B1):c.2251G>A (p.Glu751Lys)) Homo sapiens

Symbol: CV376022
Name: NM_005603.6(ATP8B1):c.2251G>A (p.Glu751Lys)
Condition: not specified [RCV000424560]
Clinical Significance: uncertain significance
Last Evaluated: 12/14/2016
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.57667126C>T
NC_000018.9:g.55334358C>T
NM_005603.4:c.2251G>A
NP_005594.2:p.Glu751Lys
NG_007148.3:g.141697G>A
NM_005603.6:c.2251G>A
LRG_1205p1:p.Glu751Lys
LRG_1205t1:c.2251G>A
LRG_1205:g.141697G>A
NM_001242804.2:c.140-880C>T
NG_007148.2:g.140970G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,667,126 - 57,667,126CLINVAR
GRCh371855,334,358 - 55,334,358CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12837086
Created: 2017-04-11
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.