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Variant : CV779956 (NM_004758.4(TSPOAP1):c.4983+7G>A) Homo sapiens

Symbol: CV779956
Name: NM_004758.4(TSPOAP1):c.4983+7G>A
Condition: not provided [RCV000972602]
Clinical Significance: likely benign
Last Evaluated: 07/11/2018
Review Status: criteria provided, single submitter
Related Genes: TSPOAP1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000017.10:g.56384965C>T
NM_024418.3:c.4803+7G>A
NM_001261835.2:c.4983+7G>A
NM_004758.4:c.4983+7G>A
NC_000017.11:g.58307604C>T
NM_004758.3:c.4983+7G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,307,604 - 58,307,604CLINVAR
GRCh371756,384,965 - 56,384,965CLINVAR
Cytogenetic Map1717q22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15173421
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.