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Variant : CV364079 (NM_144991.3(TSPEAR):c.83-69660T>G) Homo sapiens

Symbol: CV364079
Name: NM_144991.3(TSPEAR):c.83-69660T>G
Condition: not provided [RCV000432141]
Clinical Significance: benign
Last Evaluated: 06/29/2016
Review Status: criteria provided, single submitter
Related Genes: KRTAP10-10   TSPEAR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001272037.2:c.-123+52880T>G
NM_181688.3:c.248A>C
NM_144991.3:c.83-69660T>G
NG_033806.1:g.78914T>G
NC_000021.9:g.44637665A>C
NC_000021.8:g.46057582A>C
NP_859016.1:p.Asp83Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,637,665 - 44,637,665CLINVAR
GRCh372146,057,582 - 46,057,582 (+)CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12849574
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.