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Variant : CV755046 (NM_001169.3(AQP8):c.63C>T (p.Ser21=)) Homo sapiens

Symbol: CV755046
Name: NM_001169.3(AQP8):c.63C>T (p.Ser21=)
Condition: not provided [RCV000916741]
Clinical Significance: likely benign
Last Evaluated: 05/23/2018
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): NC_000016.10:g.25217248C>T
NC_000016.9:g.25228569C>T
NM_001169.2:c.63C>T
NP_001160.2:p.Ser21=
NM_001169.3:c.63C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381625,217,248 - 25,217,248CLINVAR
GRCh371625,228,569 - 25,228,569CLINVAR
Cytogenetic Map1616p12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15111503
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-20
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.