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Variant : CV626846 (NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)) Homo sapiens

Symbol: CV626846
Name: NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
Condition: Nemaline myopathy 1 [RCV000808390]
Clinical Significance: likely pathogenic
Last Evaluated: 11/15/2018
Review Status: criteria provided, single submitter
Related Genes: TPM3  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NP_001265118.1:p.Arg54Cys
NP_001265119.1:p.Arg54Cys
NP_001351608.1:p.Arg91Cys
NP_001351609.1:p.Arg91Cys
NM_001043351.2:c.160C>T
NM_001043352.2:c.160C>T
NM_001043353.2:c.160C>T
NM_001364681.2:c.271C>T
NM_152263.4:c.271C>T
NM_001278188.2:c.69-3020C>T
NG_008621.1:g.20913C>T
NC_000001.11:g.154176221G>A
NC_000001.10:g.154148697G>A
NM_152263.3:c.271C>T
NR_103461.1:n.290C>T
NP_001036816.1:p.Arg54Cys
NM_001364682.1:c.271C>T
NP_001351610.1:p.Arg91Cys
NP_001351611.1:p.Arg91Cys
NP_689476.2:p.Arg91Cys
NM_001278191.2:c.-111C>T
NM_001278189.2:c.160C>T
NM_001364680.2:c.271C>T
NP_001336608.1:p.Arg54Cys
NP_705935.1:p.Arg54Cys
NM_001278190.1:c.160C>T
NM_001349679.2:c.160C>T
NM_001364683.1:c.160C>T
NP_001036817.1:p.Arg54Cys
NP_001036818.1:p.Arg54Cys
NP_001351612.1:p.Arg54Cys
NM_153649.4:c.160C>T
NM_001364679.2:c.271C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,176,221 - 154,176,221CLINVAR
GRCh371154,148,697 - 154,148,697CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Congenital Fiber-Type Disproportion; Congenital myopathy with fiber type disproportion; RYR1-Related Congenital Fiber-Type Disproportion



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14706275
Created: 2019-09-06
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.