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Variant : CV131792 (NM_025114.3(CEP290):c.4621del (p.Thr1541Profs)) Homo sapiens

Symbol: CV131792
Name: NM_025114.3(CEP290):c.4621del (p.Thr1541Profs)
Condition: Meckel-Gruber syndrome [RCV000114199]
Clinical Significance: pathogenic
Last Evaluated: 12/11/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.88084669delT
NC_000012.11:g.88478446delT
NP_079390.3:p.Thr1541Profs
NM_025114.3:c.4621del
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,084,669 - 88,084,669CLINVAR
GRCh371288,478,446 - 88,478,446CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: DYSENCEPHALIA SPLANCHNOCYSTICA



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8591145
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
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.