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Variant : CV335831 (NM_138638.5(CFL2):c.*1295_*1297del) Homo sapiens

Symbol: CV335831
Name: NM_138638.5(CFL2):c.*1295_*1297del
Condition: Nemaline Myopathy, Recessive [RCV000366028]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CFL2  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.34711568_34711570del
NC_000014.8:g.35180774_35180776del
NR_028131.1:n.1825_1827del
NR_028130.1:n.1936_1938del
NM_021914.7:c.*1295_*1297delCTT
LRG_213:g.8254_8256del
NM_001243645.1:c.*1295_*1297del
NM_021914.7:c.*1295_*1297del
NM_138638.5:c.*1295_*1297del
NG_012740.1:g.8254_8256del
Position
Human AssemblyChrPosition (strand)Source
GRCh381434,711,568 - 34,711,570CLINVAR
GRCh371435,180,774 - 35,180,776CLINVAR
Cytogenetic Map1414q13.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11622910
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-15
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.