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Variant : CV73732 (GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1) Homo sapiens

Symbol: CV73732
Name: GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|See cases [RCV000052937]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA2   AGPAT2   AJM1   ANAPC2   ARRDC1   C8G   C9orf116   C9orf139   C9orf163   CAMSAP1   CARD9   CCDC183   CCDC183-AS1   CCDC187   CLIC3   CYSRT1   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   ENTPD2   ENTPD8   ENTR1   EXD3   FAM166A   FBXW5   FUT7   GLT6D1   GPSM1   GRIN1   INPP5E   KCNT1   LCN1   LCN10   LCN12   LCN15   LCN6   LCN8   LCN9   LCNL1   LHX3   LINC01451   LINC01502   LINC02692   LINC02846   LRRC26   MAMDC4   MAN1B1   MAN1B1-DT   MIR126   MIR3621   MIR4292   MIR4479   MIR4673   MIR4674   MIR6722   MIR7114   MRPL41   MRPS2   NACC2   NALT1   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   OBP2A   PAEP   PAXX   PHPT1   PMPCA   PNPLA7   PPP1R26   PPP1R26-AS1   PTGDS   QSOX2   RABL6   RNF208   RNF224   SAPCD2   SEC16A   SLC34A3   SNAPC4   SNHG7   SNORA17A   SNORA17B   SOHLH1   SSNA1   STPG3   STPG3-AS1   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TUBB4B   UAP1L1   UBAC1   ZMYND19  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_135452016)_(137613738_?)del
Human AssemblyChrPosition (strand)Source
GRCh389135,452,016 - 137,613,738CLINVAR
GRCh379138,343,862 - 140,508,190CLINVAR
Build 369137,483,683 - 139,628,011CLINVAR
Cytogenetic Map99q34.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619906
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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