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Variant : CV535530 (Single allele) Homo sapiens

Symbol: CV535530
Name: Single allele
Condition: Autistic disorder of childhood onset [RCV000754250]
Clinical Significance: pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: AIFM3   ARVCF   C22orf39   CCDC188   CDC45   CLDN5   COMT   CRKL   DGCR6L   DGCR8   FAM230B   FAM230G   FAM230H   GGT2   GNB1L   GP1BB   HIC2   HIRA   KLHL22   LINC00895   LINC00896   LINC01637   LINC01651   LRRC74B   LZTR1   MED15   MIR1286   MIR1306   MIR185   MIR3618   MIR4761   MIR649   MIR6816   MRPL40   P2RX6   PI4KA   RANBP1   RIMBP3B   RTL10   RTN4R   SCARF2   SEPTIN5   SERPIND1   SLC7A4   SNAP29   SNORA77B   TANGO2   TBX1   THAP7   THAP7-AS1   TMEM191C   TRMT2A   TXNRD2   UFD1   USP41   ZDHHC8   ZNF74  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh382219,295,635 - 21,510,330CLINVAR
Cytogenetic Map2222q11.21CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14351891
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-05-19
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.