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Variant : CV359834 (NM_020427.3(SLURP1):c.240_246delinsAG (p.Asp81fs)) Homo sapiens

Symbol: CV359834
Name: NM_020427.3(SLURP1):c.240_246delinsAG (p.Asp81fs)
Condition: not provided [RCV000414623]
Clinical Significance: pathogenic
Last Evaluated: 03/31/2015
Review Status: criteria provided, single submitter
Related Genes: SLURP1  
Variant Type: indel (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_011494.1:g.6197_6203delinsAG
NC_000008.11:g.142741209_142741215delinsCT
NC_000008.10:g.143822627_143822633delinsCT
NM_020427.2:c.240_246delCGACCCCinsAG
NP_065160.1:p.Asp81fs
NM_020427.3:c.240_246delinsAG
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,741,209 - 142,741,215CLINVAR
GRCh378143,822,627 - 143,822,633CLINVAR
Cytogenetic Map88q24.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12742823
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.