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Variant : CV277366 (NM_152263.4(TPM3):c.804C>T (p.Tyr268=)) Homo sapiens

Symbol: CV277366
Name: NM_152263.4(TPM3):c.804C>T (p.Tyr268=)
Condition: Congenital fiber-type disproportion [RCV000377153]|Nemaline myopathy [RCV000285057]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
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.27779C>T
NC_000001.11:g.154169355G>A
NC_000001.10:g.154141831G>A
NP_689476.2:p.Tyr268=
NM_001278191.2:c.394+1045C>T
NM_001278188.2:c.466+1045C>T
NM_001364681.2:c.775+1045C>T
NM_152263.4:c.804C>T
NM_152263.3:c.804C>T
NP_001265118.1:p.Tyr231=
NP_001336608.1:p.Tyr231=
NP_001351612.1:p.Tyr231=
NP_001351611.1:p.Tyr268=
NM_001278190.1:c.601+1045C>T
NM_001043351.2:c.664+1045C>T
NM_001278189.2:c.693C>T
NM_001349679.2:c.693C>T
NM_001364683.1:c.693C>T
NM_001364682.1:c.804C>T
NM_001043352.2:c.664+1045C>T
NM_001043353.2:c.664+1045C>T
NM_153649.4:c.664+1045C>T
NM_001364679.2:c.775+1045C>T
NM_001364680.2:c.775+1045C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,169,355 - 154,169,355CLINVAR
GRCh371154,141,831 - 154,141,831CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Myopathies, Nemaline



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11581604
Created: 2017-01-11
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.