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Variant : CV361461 (NM_152263.4(TPM3):c.831C>T (p.His277=)) Homo sapiens

Symbol: CV361461
Name: NM_152263.4(TPM3):c.831C>T (p.His277=)
Condition: not provided [RCV000415940]
Clinical Significance: uncertain significance
Last Evaluated: 03/31/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TPM3  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NP_001336608.1:p.His240=
NM_001278191.2:c.394+1072C>T
NM_001278188.2:c.466+1072C>T
NM_001278190.1:c.601+1072C>T
NM_001043351.2:c.664+1072C>T
NM_001043352.2:c.664+1072C>T
NM_001364683.1:c.720C>T
NM_001364679.2:c.775+1072C>T
NP_001351612.1:p.His240=
NG_008621.1:g.27806C>T
NC_000001.11:g.154169328G>A
NC_000001.10:g.154141804G>A
NP_689476.2:p.His277=
NM_001349679.2:c.720C>T
NM_001364680.2:c.775+1072C>T
NM_001364681.2:c.775+1072C>T
NM_001364682.1:c.831C>T
NM_152263.4:c.831C>T
NP_001265118.1:p.His240=
NM_001043353.2:c.664+1072C>T
NM_153649.4:c.664+1072C>T
NM_001278189.2:c.720C>T
NP_001351611.1:p.His277=
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,169,328 - 154,169,328CLINVAR
GRCh371154,141,804 - 154,141,804CLINVAR
Cytogenetic Map11q21.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12743054
Created: 2017-02-07
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.