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Variant : CV320444 (NM_138638.5(CFL2):c.*2076_*2078dup) Homo sapiens

Symbol: CV320444
Name: NM_138638.5(CFL2):c.*2076_*2078dup
Condition: Nemaline Myopathy, Recessive [RCV000349582]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CFL2  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_021914.7:c.*2076_*2078dupCTT
LRG_213:g.9035_9037dup
NG_012740.1:g.9035_9037dup
NM_021914.7:c.*2076_*2078dup
NM_138638.5:c.*2076_*2078dup
NC_000014.9:g.34710789_34710791dup
NC_000014.8:g.35179995_35179997dup
NR_028131.1:n.2606_2608dup
NR_028130.1:n.2717_2719dup
NM_001243645.1:c.*2076_*2078dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381434,710,786 - 34,710,787CLINVAR
GRCh371435,179,992 - 35,179,993CLINVAR
Cytogenetic Map1414q13.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635436
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-20
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.