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Variant : CV213014 (NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr)) Homo sapiens

Symbol: CV213014
Name: NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr)
Condition: Familial aplasia of the vermis [RCV000199740]|Joubert syndrome [RCV000199740]|not specified [RCV000504346]
Clinical Significance: uncertain significance
Last Evaluated: 10/05/2015
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.6547C>T
NG_008417.1:g.87221C>T
NC_000012.12:g.88059996G>A
NC_000012.11:g.88453773G>A
NP_079390.3:p.His2183Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,059,996 - 88,059,996CLINVAR
GRCh371288,453,773 - 88,453,773CLINVAR
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; Meckel-Gruber syndrome; Nephronophthisis
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10408111
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-07-16
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.