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Variant : CV140433 (NM_025114.3(CEP290):c.5199A>G (p.Gln1733=)) Homo sapiens

Symbol: CV140433
Name: NM_025114.3(CEP290):c.5199A>G (p.Gln1733=)
Condition: Bardet-Biedl syndrome [RCV000354431]|Familial aplasia of the vermis [RCV000267777]|Joubert syndrome [RCV000267777]|Joubert syndrome [RCV000472139]|Leber congenital amaurosis [RCV000319253]|Meckel-Gruber syndrome [RCV000322977]|Renal dysplasia and retinal aplasia [RCV000259368]|not specified [RCV000124248]
Clinical Significance: benign|uncertain significance
Last Evaluated: 10/21/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.67008A>G
NC_000012.12:g.88080209T>C
NC_000012.11:g.88473986T>C
NP_079390.3:p.Gln1733=
NM_025114.3:c.5199A>G
NG_008417.2:g.67008A>G
NM_025114.3:c.5199A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,080,209 - 88,080,209CLINVAR
GRCh371288,473,986 - 88,473,986CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Leber's amaurosis; Meckel-Gruber syndrome; Nephronophthisis; Senior-Loken syndrome
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8690482
Created: 2014-07-08
Species: Homo sapiens
Last Modified: 2019-10-08
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.