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Variant : CV390391 (NM_016004.5(IFT52):c.1120+26del) Homo sapiens

Symbol: CV390391
Name: NM_016004.5(IFT52):c.1120+26del
Condition: not specified [RCV000454630]
Clinical Significance: benign
Last Evaluated: 03/29/2016
Review Status: criteria provided, single submitter
Related Genes: IFT52  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_016004.5:c.1120+26del
NM_001323579.2:c.469+26del
NM_016004.2:c.1120+26delT
NM_001323578.2:c.592+26del
NM_001323580.2:c.592+26del
NM_001303459.3:c.1120+26del
NM_001323581.2:c.469+26del
NC_000020.11:g.43637279del
NM_001303458.3:c.1120+26del
NG_051913.1:g.51667del
NC_000020.10:g.42265919del
NC_000020.10:g.42265919delT
Position
Human AssemblyChrPosition (strand)Source
GRCh382043,637,279 - 43,637,279CLINVAR
GRCh372042,265,919 - 42,265,919CLINVAR
Cytogenetic Map2020q13.12CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12895916
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.