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Variant : CV326795 (NM_001009894.3(C12orf29):c.*827G>A) Homo sapiens

Symbol: CV326795
Name: NM_001009894.3(C12orf29):c.*827G>A
Condition: Bardet-Biedl syndrome [RCV000287868]|Familial aplasia of the vermis [RCV000327940]|Joubert syndrome [RCV000327940]|Leber congenital amaurosis [RCV000326424]|Meckel-Gruber syndrome [RCV000384840]|Renal dysplasia and retinal aplasia [RCV000275155]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: C12orf29   CEP290  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.97968C>T
NC_000012.12:g.88049249G>A
NC_000012.11:g.88443026G>A
NP_079390.3:p.Pro2459Ser
NM_001009894.3:c.*827G>A
NG_008417.2:g.97968C>T
NM_025114.3:c.7375C>T
NM_025114.3:c.7375C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,049,249 - 88,049,249CLINVAR
GRCh371288,443,026 - 88,443,026CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Leber's amaurosis; Senior-Loken syndrome
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11615671
Created: 2017-01-11
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.