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Variant : CV364207 (NM_144991.3(TSPEAR):c.83-6108A>G) Homo sapiens

Symbol: CV364207
Name: NM_144991.3(TSPEAR):c.83-6108A>G
Condition: not provided [RCV000442272]
Clinical Significance: benign
Last Evaluated: 07/22/2016
Review Status: criteria provided, single submitter
Related Genes: KRTAP10-4   TSPEAR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_198687.2:c.355T>C
NG_033806.1:g.142466A>G
NC_000021.9:g.44574113T>C
NC_000021.8:g.45993990T>C
NP_941960.2:p.Cys119Arg
NM_144991.3:c.83-6108A>G
NM_001272037.2:c.-122-6108A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,574,113 - 44,574,113CLINVAR
GRCh372145,993,990 - 45,993,990 (+)CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12850152
Created: 2017-04-11
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.