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Variant : CV267821 (NM_005603.6(ATP8B1):c.549T>C (p.Asp183=)) Homo sapiens

Symbol: CV267821
Name: NM_005603.6(ATP8B1):c.549T>C (p.Asp183=)
Condition: not specified [RCV000272054]
Clinical Significance: uncertain significance
Last Evaluated: 02/22/2018
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): LRG_1205:g.107779T>C
LRG_1205p1:p.Asp183=
NC_000018.10:g.57701044A>G
NC_000018.9:g.55368276A>G
NM_005603.6:c.549T>C
NG_007148.3:g.107779T>C
NP_005594.2:p.Asp183=
LRG_1205t1:c.549T>C
NG_007148.2:g.107052T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,701,044 - 57,701,044CLINVAR
GRCh371855,368,276 - 55,368,276CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11636628
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.