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Variant : CV271490 (NM_005603.6(ATP8B1):c.1093C>G (p.Gln365Glu)) Homo sapiens

Symbol: CV271490
Name: NM_005603.6(ATP8B1):c.1093C>G (p.Gln365Glu)
Condition: not specified [RCV000332227]
Clinical Significance: uncertain significance
Last Evaluated: 03/29/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57691934G>C
NC_000018.9:g.55359166G>C
NM_005603.6:c.1093C>G
NG_007148.3:g.116889C>G
NP_005594.2:p.Gln365Glu
LRG_1205t1:c.1093C>G
LRG_1205:g.116889C>G
LRG_1205p1:p.Gln365Glu
NG_007148.2:g.116162C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,691,934 - 57,691,934CLINVAR
GRCh371855,359,166 - 55,359,166CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11640152
Created: 2017-01-11
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.