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Variant : CV379085 (NM_005603.6(ATP8B1):c.2796G>A (p.Leu932=)) Homo sapiens

Symbol: CV379085
Name: NM_005603.6(ATP8B1):c.2796G>A (p.Leu932=)
Condition: not specified [RCV000445215]
Clinical Significance: likely benign
Last Evaluated: 06/03/2016
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): NC_000018.10:g.57655329C>T
NC_000018.9:g.55322561C>T
NP_005594.2:p.Leu932=
NM_005603.4:c.2796G>A
NG_007148.3:g.153494G>A
NM_005603.6:c.2796G>A
LRG_1205t1:c.2796G>A
LRG_1205p1:p.Leu932=
LRG_1205:g.153494G>A
NM_001242804.2:c.140-12677C>T
NG_007148.2:g.152767G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,655,329 - 57,655,329CLINVAR
GRCh371855,322,561 - 55,322,561CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12848402
Created: 2017-04-11
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.