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Variant : CV27489 (NM_152263.4(TPM3):c.503G>A (p.Arg168His)) Homo sapiens

Symbol: CV27489
Name: NM_152263.4(TPM3):c.503G>A (p.Arg168His)
Condition: Cap myopathy 1 [RCV000054415]|Congenital myopathy with fiber type disproportion [RCV000013264]|Nemaline myopathy 1 [RCV000013263]|Nemaline myopathy 1 [RCV000537032]|not provided [RCV000128701]
Clinical Significance: pathogenic|not provided
Last Evaluated: 05/02/2017
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, single submitter|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: TPM3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|non-coding transcript variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NG_008621.1:g.24163G>A
NC_000001.11:g.154172971C>T
NC_000001.10:g.154145447C>T
NM_152263.2:c.503G>A
NP_689476.2:p.Arg168His
r.(?)
p.(Arg168His)
NP_705935.1:p.Arg131His
NP_001036818.1:p.Arg131His
P06753:p.Arg168His
NM_001278191.2:c.122G>A
NM_001278188.2:c.194G>A
NM_001043351.2:c.392G>A
NM_001043352.2:c.392G>A
NM_001043353.2:c.392G>A
NM_001278189.2:c.392G>A
NM_001278190.1:c.392G>A
NM_001349679.2:c.392G>A
NM_001364683.1:c.392G>A
NM_153649.4:c.392G>A
NM_001364679.2:c.503G>A
NM_001364680.2:c.503G>A
NM_001364681.2:c.503G>A
NM_001364682.1:c.503G>A
NM_152263.4:c.503G>A
NM_152263.3:c.503G>A
NR_103461.1:n.522G>A
NP_001036816.1:p.Arg131His
NP_001036817.1:p.Arg131His
NP_001265118.1:p.Arg131His
NP_001265119.1:p.Arg131His
NP_001336608.1:p.Arg131His
NP_001351612.1:p.Arg131His
NP_001351608.1:p.Arg168His
NP_001351609.1:p.Arg168His
NP_001351610.1:p.Arg168His
NP_001351611.1:p.Arg168His
NP_001265120.1:p.Arg41His
NP_001265117.1:p.Arg65His
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,172,971 - 154,172,971CLINVAR
GRCh371154,145,447 - 154,145,447CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Congenital Fiber-Type Disproportion; Congenital myopathy with fiber type disproportion; RYR1-Related Congenital Fiber-Type Disproportion
Age Of Onset: all ages|neonatal/infancy|variable
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8563118
Created: 2014-05-13
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.