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Variant : CV272406 (NM_005603.6(ATP8B1):c.1030-9G>A) Homo sapiens

Symbol: CV272406
Name: NM_005603.6(ATP8B1):c.1030-9G>A
Condition: not specified [RCV000290232]
Clinical Significance: uncertain significance
Last Evaluated: 05/16/2016
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): NC_000018.10:g.57692006C>T
NC_000018.9:g.55359238C>T
NG_007148.3:g.116817G>A
NM_005603.6:c.1030-9G>A
LRG_1205t1:c.1030-9G>A
LRG_1205:g.116817G>A
NG_007148.2:g.116090G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,692,006 - 57,692,006CLINVAR
GRCh371855,359,238 - 55,359,238CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11637760
Created: 2017-01-11
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.