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Variant : CV771667 (NM_004758.4(TSPOAP1):c.1513G>A (p.Glu505Lys)) Homo sapiens

Symbol: CV771667
Name: NM_004758.4(TSPOAP1):c.1513G>A (p.Glu505Lys)
Condition: not provided [RCV000943537]
Clinical Significance: likely benign
Last Evaluated: 08/20/2018
Review Status: criteria provided, single submitter
Related Genes: TSPOAP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_024418.3:c.1333G>A
NM_001261835.2:c.1513G>A
NM_004758.4:c.1513G>A
NC_000017.11:g.58319276C>T
NC_000017.10:g.56396637C>T
NM_004758.3:c.1513G>A
NP_077729.1:p.Glu445Lys
NP_001248764.1:p.Glu505Lys
NP_004749.2:p.Glu505Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,319,276 - 58,319,276CLINVAR
GRCh371756,396,637 - 56,396,637CLINVAR
Cytogenetic Map1717q22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15139344
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.