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Variant : CV335850 (NM_138638.5(CFL2):c.312-7del) Homo sapiens

Symbol: CV335850
Name: NM_138638.5(CFL2):c.312-7del
Condition: Nemaline Myopathy, Recessive [RCV000404309]|not specified [RCV000607301]
Clinical Significance: benign
Last Evaluated: 03/16/2018
Review Status: criteria provided, single submitter
Related Genes: CFL2  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_021914.7:c.312-7del
NM_021914.7:c.312-7delT
NM_001243645.1:c.261-7del
NM_138638.5:c.312-7del
NG_012740.1:g.6681del
NC_000014.9:g.34713154del
NC_000014.8:g.35182360del
LRG_213:g.6681del
Position
Human AssemblyChrPosition (strand)Source
GRCh381434,713,143 - 34,713,143CLINVAR
GRCh371435,182,349 - 35,182,349CLINVAR
Cytogenetic Map1414q13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11625949
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.