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Variant : CV206724 (NM_152263.4(TPM3):c.734G>T (p.Arg245Ile)) Homo sapiens

Symbol: CV206724
Name: NM_152263.4(TPM3):c.734G>T (p.Arg245Ile)
Condition: Muscular Diseases [RCV000193345]|Myopathy [RCV000193345]
Clinical Significance: likely pathogenic
Last Evaluated: 12/29/2014
Review Status: criteria provided, single submitter
Related Genes: TPM3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008621.1:g.26693G>T
NC_000001.11:g.154170441C>A
NC_000001.10:g.154142917C>A
NM_152263.2:c.734G>T
NP_001036818.1:p.Arg208Ile
NP_705935.1:p.Arg208Ile
NP_689476.2:p.Arg245Ile
P06753:p.Arg245Ile
NM_001278191.2:c.353G>T
NM_001364679.2:c.734G>T
NM_001364680.2:c.734G>T
NM_001364681.2:c.734G>T
NM_001364682.1:c.734G>T
NM_152263.4:c.734G>T
NR_103461.1:n.749G>T
NP_001265120.1:p.Arg118Ile
NP_001265117.1:p.Arg142Ile
NP_001265119.1:p.Arg187Ile
NP_001036816.1:p.Arg208Ile
NP_001036817.1:p.Arg208Ile
NP_001336608.1:p.Arg208Ile
NP_001351608.1:p.Arg245Ile
NP_001265118.1:p.Arg208Ile
NP_001351612.1:p.Arg208Ile
NP_001351609.1:p.Arg245Ile
NM_001278188.2:c.425G>T
NM_001278190.1:c.560G>T
NM_001043351.2:c.623G>T
NM_001043352.2:c.623G>T
NM_001043353.2:c.623G>T
NM_001278189.2:c.623G>T
NM_001349679.2:c.623G>T
NM_001364683.1:c.623G>T
NM_153649.4:c.623G>T
NP_001351610.1:p.Arg245Ile
NP_001351611.1:p.Arg245Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,170,441 - 154,170,441CLINVAR
GRCh371154,142,917 - 154,142,917CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Muscle tissue disease; Myopathic changes; Myopathy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10408345
Created: 2015-11-10
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.