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Variant : CV584930 (NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)) Homo sapiens

Symbol: CV584930
Name: NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)
Condition: not provided [RCV000729029]
Clinical Significance: uncertain significance
Last Evaluated: 09/20/2017
Review Status: criteria provided, single submitter
Related Genes: TSPEAR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_001258966.1:p.Gly407Ser
NM_144991.3:c.1423G>A
NG_033806.1:g.194553G>A
NC_000021.9:g.44522026C>T
NC_000021.8:g.45941909C>T
NP_659428.2:p.Gly475Ser
NM_001272037.2:c.1219G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,522,026 - 44,522,026CLINVAR
GRCh372145,941,909 - 45,941,909CLINVAR
Cytogenetic Map2121q22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13833692
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-09-10
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.