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Variant : CV587594 (NM_005603.6(ATP8B1):c.1274T>G (p.Met425Arg)) Homo sapiens

Symbol: CV587594
Name: NM_005603.6(ATP8B1):c.1274T>G (p.Met425Arg)
Condition: not provided [RCV000732402]
Clinical Significance: uncertain significance
Last Evaluated: 03/15/2018
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.119642T>G
LRG_1205t1:c.1274T>G
NM_005603.6:c.1274T>G
LRG_1205:g.120369T>G
NG_007148.3:g.120369T>G
NC_000018.10:g.57688454A>C
NC_000018.9:g.55355686A>C
LRG_1205p1:p.Met425Arg
NP_005594.2:p.Met425Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,688,454 - 57,688,454CLINVAR
GRCh371855,355,686 - 55,355,686CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13836322
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.