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Variant : CV587855 (NM_005603.6(ATP8B1):c.3532-8C>G) Homo sapiens

Symbol: CV587855
Name: NM_005603.6(ATP8B1):c.3532-8C>G
Condition: not provided [RCV000732740]
Clinical Significance: uncertain significance
Last Evaluated: 04/06/2018
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_1205t1:c.3532-8C>G
NM_005603.6:c.3532-8C>G
LRG_1205:g.160103C>G
NG_007148.3:g.160103C>G
NC_000018.10:g.57648720G>C
NC_000018.9:g.55315952G>C
NM_001242804.2:c.139+6668G>C
NG_007148.2:g.159376C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,648,720 - 57,648,720CLINVAR
GRCh371855,315,952 - 55,315,952CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13836579
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.