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Variant : CV249393 (NM_152263.4(TPM3):c.776-49T>C) Homo sapiens

Symbol: CV249393
Name: NM_152263.4(TPM3):c.776-49T>C
Condition: not provided [RCV000829388]|not specified [RCV000246581]
Clinical Significance: benign
Last Evaluated: 06/14/2018
Review Status: 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.27702T>C
NC_000001.11:g.154169432A>G
NC_000001.10:g.154141908A>G
NM_152263.2:c.776-49T>C
NM_001278191.2:c.394+968T>C
NM_001278188.2:c.466+968T>C
NM_001278190.1:c.601+968T>C
NM_001043351.2:c.664+968T>C
NM_001043352.2:c.664+968T>C
NM_001043353.2:c.664+968T>C
NM_153649.4:c.664+968T>C
NM_001278189.2:c.665-49T>C
NM_001349679.2:c.665-49T>C
NM_001364683.1:c.665-49T>C
NM_001364679.2:c.775+968T>C
NM_001364680.2:c.775+968T>C
NM_001364681.2:c.775+968T>C
NM_001364682.1:c.776-49T>C
NM_152263.4:c.776-49T>C
NM_152263.3:c.776-49T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,169,432 - 154,169,432CLINVAR
GRCh371154,141,908 - 154,141,908CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11542305
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.