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Variant : CV27485 (NM_152263.4(TPM3):c.26T>G (p.Met9Arg)) Homo sapiens

Symbol: CV27485
Name: NM_152263.4(TPM3):c.26T>G (p.Met9Arg)
Condition: Nemaline myopathy 1 [RCV000013259]|not provided [RCV000128695]
Clinical Significance: pathogenic|not provided
Last Evaluated: 08/05/2013
Review Status: classified by multiple submitters|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: curation|literature only|not provided
HGVS Name(s): NG_008621.1:g.5141T>G
NC_000001.11:g.154191993A>C
NC_000001.10:g.154164469A>C
NM_152263.2:c.26T>G
NP_689476.2:p.Met9Arg
r.26u>g
P06753:p.Met9Arg
NM_152263.4:c.26T>G
NR_103460.1:n.75T>G
NP_001351608.1:p.Met9Arg
NP_001351609.1:p.Met9Arg
NP_001351611.1:p.Met9Arg
NM_001364679.2:c.26T>G
NM_001364680.2:c.26T>G
NM_001364681.2:c.26T>G
NM_001364682.1:c.26T>G
NP_001351610.1:p.Met9Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,191,993 - 154,191,993CLINVAR
GRCh371154,164,469 - 154,164,469CLINVAR
Cytogenetic Map11q21.3CLINVAR
Age Of Onset: all ages|variable
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8563114
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.