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Variant : CV778528 (NM_004758.4(TSPOAP1):c.2930-3C>T) Homo sapiens

Symbol: CV778528
Name: NM_004758.4(TSPOAP1):c.2930-3C>T
Condition: not provided [RCV000957640]
Clinical Significance: benign
Last Evaluated: 05/31/2017
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): NM_024418.3:c.2750-3C>T
NM_001261835.2:c.2930-3C>T
NM_004758.4:c.2930-3C>T
NC_000017.11:g.58311725G>A
NC_000017.10:g.56389086G>A
NM_004758.3:c.2930-3C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,311,725 - 58,311,725CLINVAR
GRCh371756,389,086 - 56,389,086CLINVAR
Cytogenetic Map1717q22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15201502
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.