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Variant : CV679039 (NM_020066.5(FMN2):c.162del (p.Gly55fs)) Homo sapiens

Symbol: CV679039
Name: NM_020066.5(FMN2):c.162del (p.Gly55fs)
Condition: Hirschsprung disease [RCV000984779]
Clinical Significance: uncertain significance
Last Evaluated: 05/16/2019
Review Status: no assertion criteria provided
Related Genes: FMN2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001305424.2:c.162del
NM_001348094.2:c.162del
NM_020066.5:c.162del
NG_042054.1:g.5387del
NC_000001.11:g.240092271del
NC_000001.10:g.240255571del
NM_001305424.1:c.162delC
NP_001292353.1:p.Gly55fs
NP_001335023.1:p.Gly55fs
NP_064450.3:p.Gly55fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381240,092,271 - 240,092,271CLINVAR
GRCh371240,255,571 - 240,255,571CLINVAR
Cytogenetic Map11q43CLINVAR
Trait Synonyms: Congenital megacolon; Hirschsprung's disease



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15174239
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-09-08
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.