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Variant : CV249395 (NM_152263.4(TPM3):c.566+18C>G) Homo sapiens

Symbol: CV249395
Name: NM_152263.4(TPM3):c.566+18C>G
Condition: not specified [RCV000251222]
Clinical Significance: benign
Last Evaluated: 07/28/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: TPM3  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_008621.1:g.24244C>G
NC_000001.11:g.154172890G>C
NC_000001.10:g.154145366G>C
NM_152263.2:c.566+18C>G
NM_001043352.2:c.455+18C>G
NM_001364680.2:c.566+18C>G
NM_001278191.2:c.185+18C>G
NM_001278188.2:c.257+18C>G
NM_001043351.2:c.455+18C>G
NM_001043353.2:c.455+18C>G
NM_001278189.2:c.455+18C>G
NM_001349679.2:c.455+18C>G
NM_001364679.2:c.566+18C>G
NM_001364681.2:c.566+18C>G
NM_001364682.1:c.566+18C>G
NM_152263.4:c.566+18C>G
NM_152263.3:c.566+18C>G
NM_001278190.1:c.455+18C>G
NM_001364683.1:c.455+18C>G
NM_153649.4:c.455+18C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,172,890 - 154,172,890CLINVAR
GRCh371154,145,366 - 154,145,366CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11542374
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.