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Variant : CV105739 (NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs)) Homo sapiens

Symbol: CV105739
Name: NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs)
Condition: Joubert syndrome 5 [RCV000201666]|Joubert syndrome [RCV000695282]|Meckel-Gruber syndrome [RCV000114193]|not provided [RCV000086287]
Clinical Significance: pathogenic|not provided
Last Evaluated: 05/03/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: CEP290  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only|not provided|research
HGVS Name(s): NM_025114.3:c.3175dupA
NC_000012.12:g.88093904dupT
NC_000012.11:g.88487681dupT
NP_079390.3:p.Ile1059Asnfs
NG_008417.1:g.53313dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,093,904 - 88,093,904CLINVAR
GRCh371288,487,681 - 88,487,681CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Meckel-Gruber syndrome; Nephronophthisis
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8591139
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.