Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV193875 (NM_025114.3(CEP290):c.3654T>C (p.Leu1218=)) Homo sapiens

Symbol: CV193875
Name: NM_025114.3(CEP290):c.3654T>C (p.Leu1218=)
Condition: Bardet-Biedl syndrome [RCV000300808]|Familial aplasia of the vermis [RCV000198308]|Familial aplasia of the vermis [RCV000335768]|Joubert syndrome [RCV000198308]|Joubert syndrome [RCV000335768]|Leber congenital amaurosis [RCV000400157]|Meckel-Gruber syndrome [RCV000401126]|Renal dysplasia and retinal aplasia [RCV000348352]|not specified [RCV000177576]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 03/01/2017
Review Status: 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.57810T>C
NC_000012.12:g.88089407A>G
NC_000012.11:g.88483184A>G
NP_079390.3:p.Leu1218=
NG_008417.2:g.57810T>C
NM_025114.3:c.3654T>C
NM_025114.3:c.3654T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,089,407 - 88,089,407CLINVAR
GRCh371288,483,184 - 88,483,184CLINVAR
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 - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10048601
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.