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Variant : CV715593 (NM_004758.4(TSPOAP1):c.2517G>A (p.Ala839=)) Homo sapiens

Symbol: CV715593
Name: NM_004758.4(TSPOAP1):c.2517G>A (p.Ala839=)
Condition: not provided [RCV000962616]
Clinical Significance: likely benign
Last Evaluated: 02/09/2018
Review Status: criteria provided, single submitter
Related Genes: TSPOAP1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001261835.2:c.2517G>A
NM_004758.4:c.2517G>A
NP_077729.1:p.Ala779=
NP_001248764.1:p.Ala839=
NP_004749.2:p.Ala839=
NM_024418.3:c.2337G>A
NC_000017.11:g.58312304C>T
NC_000017.10:g.56389665C>T
NM_004758.3:c.2517G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,312,304 - 58,312,304CLINVAR
GRCh371756,389,665 - 56,389,665CLINVAR
Cytogenetic Map1717q22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15119829
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.