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Variant : CV326805 (NM_001009894.3(C12orf29):c.*926C>T) Homo sapiens

Symbol: CV326805
Name: NM_001009894.3(C12orf29):c.*926C>T
Condition: Bardet-Biedl syndrome [RCV000407058]|Familial aplasia of the vermis [RCV000338001]|Joubert syndrome [RCV000338001]|Joubert syndrome [RCV000544687]|Leber congenital amaurosis [RCV000407054]|Meckel-Gruber syndrome [RCV000298062]|Renal dysplasia and retinal aplasia [RCV000369181]
Clinical Significance: uncertain significance
Last Evaluated: 05/04/2017
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.97869G>A
NC_000012.12:g.88049348C>T
NC_000012.11:g.88443125C>T
NP_079390.3:p.Asp2426Asn
NM_001009894.3:c.*926C>T
NG_008417.2:g.97869G>A
NM_025114.3:c.7276G>A
NM_025114.3:c.7276G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,049,348 - 88,049,348CLINVAR
GRCh371288,443,125 - 88,443,125CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; 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: 11626097
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.