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Variant : CV497883 (NM_144991.3(TSPEAR):c.1754+7G>A) Homo sapiens

Symbol: CV497883
Name: NM_144991.3(TSPEAR):c.1754+7G>A
Condition: not specified [RCV000607341]
Clinical Significance: likely benign
Last Evaluated: 03/16/2017
Review Status: criteria provided, single submitter
Related Genes: TSPEAR   TSPEAR-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_144991.2:c.1754+7G>A
NC_000021.9:g.44509192C>T
NG_033806.1:g.207387G>A
NC_000021.8:g.45929075C>T
NM_001272037.2:c.1550+7G>A
NM_144991.3:c.1754+7G>A
NC_000021.8:g.45929075C>T
NM_144991.2:c.1754+7G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,509,192 - 44,509,192CLINVAR
GRCh372145,929,075 - 45,929,075CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13592685
Created: 2018-05-15
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.