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Variant : CV535465 (Single allele) Homo sapiens

Symbol: CV535465
Name: Single allele
Condition: Autistic disorder of childhood onset [RCV000754185]
Clinical Significance: pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,553,914 - 30,184,960CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: Autism



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14351747
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.