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Variant : CV491565 (NM_005603.6(ATP8B1):c.511A>G (p.Lys171Glu)) Homo sapiens

Symbol: CV491565
Name: NM_005603.6(ATP8B1):c.511A>G (p.Lys171Glu)
Condition: not specified [RCV000596592]
Clinical Significance: uncertain significance
Last Evaluated: 01/27/2017
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.57701082T>C
NC_000018.9:g.55368314T>C
NM_005603.6:c.511A>G
NG_007148.3:g.107741A>G
NP_005594.2:p.Lys171Glu
LRG_1205t1:c.511A>G
LRG_1205:g.107741A>G
LRG_1205p1:p.Lys171Glu
NG_007148.2:g.107014A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,701,082 - 57,701,082CLINVAR
GRCh371855,368,314 - 55,368,314CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13517564
Created: 2018-04-10
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.