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Variant : CV506596 (NM_005603.6(ATP8B1):c.182-12dup) Homo sapiens

Symbol: CV506596
Name: NM_005603.6(ATP8B1):c.182-12dup
Condition: not provided [RCV000728891]|not specified [RCV000605854]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 05/23/2018
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_007148.3:g.102231dup
NC_000018.10:g.57706599dup
NC_000018.9:g.55373831dup
NM_005603.4:c.182-5dupT
NM_005603.4:c.182-5dupT
NM_005603.6:c.182-12dup
NG_007148.2:g.101504dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,706,592 - 57,706,592CLINVAR
GRCh371855,373,824 - 55,373,824CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13529751
Created: 2018-05-08
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.