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Variant : CV585118 (NM_005603.6(ATP8B1):c.2605del (p.Thr869fs)) Homo sapiens

Symbol: CV585118
Name: NM_005603.6(ATP8B1):c.2605del (p.Thr869fs)
Condition: not provided [RCV000729264]
Clinical Significance: pathogenic
Last Evaluated: 09/12/2017
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_1205t1:c.2605del
NG_007148.3:g.147547del
NC_000018.10:g.57661276del
NM_005603.6:c.2605del
NC_000018.9:g.55328508del
LRG_1205p1:p.Thr869fs
NP_005594.2:p.Thr869fs
NM_001242804.2:c.140-6730del
LRG_1205:g.147547del
NG_007148.2:g.146820del
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,661,276 - 57,661,276CLINVAR
GRCh371855,328,508 - 55,328,508CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13833878
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.