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Variant : CV727319 (NM_004758.4(TSPOAP1):c.644G>T (p.Arg215Leu)) Homo sapiens

Symbol: CV727319
Name: NM_004758.4(TSPOAP1):c.644G>T (p.Arg215Leu)
Condition: not provided [RCV000887240]
Clinical Significance: benign
Last Evaluated: 08/15/2017
Review Status: criteria provided, single submitter
Related Genes: TSPOAP1   TSPOAP1-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_024418.3:c.571-638G>T
NM_001261835.2:c.644G>T
NM_004758.4:c.644G>T
NC_000017.11:g.58325640C>A
NC_000017.10:g.56403001C>A
NR_038410.1:n.191C>A
NM_004758.3:c.644G>T
NP_001248764.1:p.Arg215Leu
NP_004749.2:p.Arg215Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,325,640 - 58,325,640CLINVAR
GRCh371756,403,001 - 56,403,001CLINVAR
Cytogenetic Map1717q22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15187385
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-11
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.