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Variant : CV237934 (Single allele) Homo sapiens

Symbol: CV237934
Name: Single allele
Condition: Autism spectrum disorder [RCV000225609]
Clinical Significance: pathogenic
Last Evaluated: 10/12/2015
Review Status: criteria provided, single submitter
Related Genes: ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   DGCR2   DGCR6   DGCR6L   DGCR8   ESS2   FAM230A   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   KLHL22   MED15   MRPL40   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SCARF2   SEPTIN5   SLC25A1   TANGO2   TBX1   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   USP41   ZDHHC8   ZNF74  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,874,965 - 21,028,946CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: Autism spectrum disorders; Autism susceptibility



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11345471
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-08-04
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.