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Variant : CV623730 (NC_000019.9:g.1406030_3597207dup) Homo sapiens

Symbol: CV623730
Name: NC_000019.9:g.1406030_3597207dup
Condition: Neurodevelopmental disorder [RCV000787423]
Clinical Significance: uncertain significance
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ABHD17A   ADAMTSL5   ADAT3   AMH   AP3D1   APC2   ATP8B3   BTBD2   C19orf25   C19orf71   CELF5   CSNK1G2   DAZAP1   DIRAS1   DOHH   DOT1L   FZR1   GADD45B   GIPC3   GNA11   GNA15   GNG7   HMG20B   IZUMO4   JSRP1   KLF16   LINGO3   LMNB2   LSM7   MBD3   MEX3D   MFSD12   MIR1909   MKNK2   MOB3A   NCLN   NFIC   OAZ1   ONECUT3   PCSK4   PEAK3   PLEKHJ1   PLK5   REEP6   REXO1   RPS15   S1PR4   SCAMP4   SF3A2   SGTA   SLC39A3   SMIM24   SPPL2B   TBXA2R   TCF3   THOP1   TIMM13   TLE2   TLE5   TLE6   TMPRSS9   UQCR11   ZNF554   ZNF555   ZNF556   ZNF77  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000019.9:g.1406030_3597207dup
Human AssemblyChrPosition (strand)Source
GRCh37191,406,030 - 3,597,207CLINVAR
Cytogenetic Map1919p13.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698817
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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