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Variant : CV589237 (NM_005603.6(ATP8B1):c.3636G>A (p.Ser1212=)) Homo sapiens

Symbol: CV589237
Name: NM_005603.6(ATP8B1):c.3636G>A (p.Ser1212=)
Condition: not provided [RCV000734510]
Clinical Significance: uncertain significance
Last Evaluated: 07/26/2018
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_1205t1:c.3636G>A
NM_005603.6:c.3636G>A
LRG_1205:g.160215G>A
NG_007148.3:g.160215G>A
NC_000018.10:g.57648608C>T
NC_000018.9:g.55315840C>T
LRG_1205p1:p.Ser1212=
NP_005594.2:p.Ser1212=
NM_001242804.2:c.139+6556C>T
NG_007148.2:g.159488G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,648,608 - 57,648,608CLINVAR
GRCh371855,315,840 - 55,315,840CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13837939
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.