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Variant : CV226665 (Single allele) Homo sapiens

Symbol: CV226665
Name: Single allele
Condition: Currarino triad [RCV000417195]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: ABCC5   ABCC5-AS1   ABCF3   AC076966.2   AC107294.2   AC108734.4   ACTL6A   ALG3   AP2M1   ATP11B   B3GNT5   C3orf70   CAMK2N2   CCDC39   CHRD   CLCN2   DCUN1D1   DNAJC19   DVL3   ECE2   EEF1AKMT4   EEF1AKMT4-ECE2   EHHADH   EHHADH-AS1   EIF2B5   EIF4G1   EPHB3   FAM131A   FXR1   GNB4   HTR3C   HTR3D   HTR3E   HTR3E-AS1   IGF2BP2   IGF2BP2-AS1   KCNMB2   KCNMB2-AS1   KCNMB3   KLHL24   KLHL6   KLHL6-AS1   LAMP3   LINC00888   LINC01014   LINC01206   LINC01839   LINC01840   LINC01994   LINC01995   LINC02015   LINC02031   LINC02053   LINC02054   LINC02069   LIPH   MAGEF1   MAP3K13   MAP6D1   MCCC1   MCF2L2   MFN1   MIR1224   MIR4448   MIR5588   MRPL47   NDUFB5   PARL   PEX5L   PEX5L-AS2   PIK3CA   POLR2H   PSMD2   SENP2   SNORA63D   SNORA63E   SNORD66   SOX2   SOX2-OT   THPO   TMEM41A   TTC14   USP13   VPS8   VWA5B2   YEATS2   YEATS2-AS1   ZMAT3   ZNF639  
Variant Type: duplication (SO:1000035)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh383177,772,523 - 185,716,872CLINVAR
Cytogenetic Map33q26.32-27.2CLINVAR
Trait Synonyms: Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
Age Of Onset: all ages
Prevalence: 1-9 / 100 000

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12791727
Created: 2017-03-07
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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