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Variant : CV254734 (NM_001009894.3(C12orf29):c.*743_*746del) Homo sapiens

Symbol: CV254734
Name: NM_001009894.3(C12orf29):c.*743_*746del
Condition: Bardet-Biedl syndrome [RCV000260946]|Familial aplasia of the vermis [RCV000353438]|Joubert syndrome [RCV000353438]|Leber congenital amaurosis [RCV000385919]|Meckel-Gruber syndrome [RCV000332442]|Renal dysplasia and retinal aplasia [RCV000300901]|not specified [RCV000243768]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: C12orf29   CEP290  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001009894.3:c.*743_*746del
NG_008417.1:g.98052_98055del
NG_008417.2:g.98052_98055del
NC_000012.12:g.88049165_88049168del
NM_025114.3:c.*19_*22del
NC_000012.11:g.88442942_88442945del
NM_025114.3:c.*19_*22delGTTT
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,049,162 - 88,049,165CLINVAR
GRCh371288,442,939 - 88,442,942CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; 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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11544416
Created: 2016-10-11
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.