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Variant : CV102066 (NM_025114.3(CEP290):c.4237G>C (p.Asp1413His)) Homo sapiens

Symbol: CV102066
Name: NM_025114.3(CEP290):c.4237G>C (p.Asp1413His)
Condition: Bardet-Biedl syndrome [RCV000408211]|Familial aplasia of the vermis [RCV000351974]|Joubert syndrome [RCV000351974]|Joubert syndrome [RCV000467302]|Leber congenital amaurosis [RCV000307654]|Meckel-Gruber syndrome [RCV000402012]|Renal dysplasia and retinal aplasia [RCV000366483]|not provided [RCV000442189]|not specified [RCV000082249]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 09/30/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.60761G>C
NC_000012.12:g.88086456C>G
NC_000012.11:g.88480233C>G
NP_079390.3:p.Asp1413His
NG_008417.2:g.60761G>C
NM_025114.3:c.4237G>C
NP_079390.3:p.Asp1413His
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,086,456 - 88,086,456CLINVAR
GRCh371288,480,233 - 88,480,233CLINVAR
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: 8643083
Created: 2014-05-13
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.