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Variant : CV489580 (NM_005603.6(ATP8B1):c.1671C>A (p.Ala557=)) Homo sapiens

Symbol: CV489580
Name: NM_005603.6(ATP8B1):c.1671C>A (p.Ala557=)
Condition: not specified [RCV000597683]
Clinical Significance: uncertain significance
Last Evaluated: 10/24/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000018.9:g.55342214G>T
NC_000018.10:g.57674982G>T
NM_005603.6:c.1671C>A
NP_005594.2:p.Ala557=
NG_007148.3:g.133841C>A
LRG_1205t1:c.1671C>A
LRG_1205:g.133841C>A
LRG_1205p1:p.Ala557=
NG_007148.2:g.133114C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,674,982 - 57,674,982CLINVAR
GRCh371855,342,214 - 55,342,214CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13518919
Created: 2018-04-10
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.