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Variant : CV623693 (Single allele) Homo sapiens

Symbol: CV623693
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787386]
Clinical Significance: likely pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   DOC2A   HIRIP3   INO80E   KCTD13   KIF22   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371629,526,295 - 30,106,669CLINVAR
Cytogenetic Map1616p11.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698779
Created: 2019-08-06
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.