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Variant : CV326794 (NM_001009894.3(C12orf29):c.*618_*621TATT[1]) Homo sapiens

Symbol: CV326794
Name: NM_001009894.3(C12orf29):c.*618_*621TATT[1]
Condition: Bardet-Biedl syndrome [RCV000391265]|Familial aplasia of the vermis [RCV000341354]|Joubert syndrome [RCV000341354]|Leber congenital amaurosis [RCV000301918]|Meckel-Gruber syndrome [RCV000359008]|Renal dysplasia and retinal aplasia [RCV000261908]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: C12orf29   CEP290  
Variant Type: microsatellite (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001009894.3:c.*618_*621TATT[1]
NG_008417.1:g.98172_98175TAAA[1]
NG_008417.2:g.98172_98175TAAA[1]
NC_000012.12:g.88049040_88049043TATT[1]
NC_000012.11:g.88442817_88442820TATT[1]
NM_025114.3:c.*139_*142TAAA[1]
NM_025114.3:c.*143_*146delTAAA
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,049,038 - 88,049,041CLINVAR
GRCh371288,442,815 - 88,442,818CLINVAR
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




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11644784
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.