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Variant : CV703575 (NM_001169.3(AQP8):c.654G>A (p.Ala218=)) Homo sapiens

Symbol: CV703575
Name: NM_001169.3(AQP8):c.654G>A (p.Ala218=)
Condition: not provided [RCV000959754]
Clinical Significance: benign
Last Evaluated: 05/24/2018
Review Status: criteria provided, single submitter
Related Genes: AQP8  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001169.3:c.654G>A
NC_000016.10:g.25227119G>A
NC_000016.9:g.25238440G>A
NM_001169.2:c.654G>A
NP_001160.2:p.Ala218=
Position
Human AssemblyChrPosition (strand)Source
GRCh381625,227,119 - 25,227,119CLINVAR
GRCh371625,238,440 - 25,238,440CLINVAR
Cytogenetic Map1616p12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15104779
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-04
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.