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Variant : CV584574 (NM_005603.6(ATP8B1):c.3430T>C (p.Tyr1144His)) Homo sapiens

Symbol: CV584574
Name: NM_005603.6(ATP8B1):c.3430T>C (p.Tyr1144His)
Condition: not provided [RCV000728571]
Clinical Significance: uncertain significance
Last Evaluated: 08/03/2017
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.57650468A>G
NC_000018.9:g.55317700A>G
LRG_1205p1:p.Tyr1144His
NP_005594.2:p.Tyr1144His
LRG_1205t1:c.3430T>C
NM_005603.6:c.3430T>C
LRG_1205:g.158355T>C
NG_007148.3:g.158355T>C
NM_001242804.2:c.139+8416A>G
NG_007148.2:g.157628T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,650,468 - 57,650,468CLINVAR
GRCh371855,317,700 - 55,317,700CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13833342
Created: 2019-01-08
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.