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Variant : CV585945 (NM_005603.6(ATP8B1):c.2453_2456del (p.Asn818fs)) Homo sapiens

Symbol: CV585945
Name: NM_005603.6(ATP8B1):c.2453_2456del (p.Asn818fs)
Condition: not provided [RCV000730280]
Clinical Significance: pathogenic
Last Evaluated: 11/06/2017
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.2453_2456del
NM_001242804.2:c.140-6579_140-6576del
LRG_1205:g.147395_147398del
NG_007148.2:g.146668_146671del
NM_005603.6:c.2453_2456del
NG_007148.3:g.147395_147398del
NC_000018.10:g.57661427_57661430del
NC_000018.9:g.55328659_55328662del
LRG_1205p1:p.Asn818fs
NP_005594.2:p.Asn818fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,661,425 - 57,661,428CLINVAR
GRCh371855,328,657 - 55,328,660CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13834696
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.