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Variant : CV73733 (GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1) Homo sapiens

Symbol: CV73733
Name: GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938]
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   ARRDC1-AS1   C8G   C9orf139   C9orf163   CACNA1B   CARD9   CCDC183   CCDC183-AS1   CCDC187   CLIC3   CYSRT1   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   FAM166A   FBXW5   FUT7   GPSM1   GRIN1   INPP5E   LCN10   LCN12   LCN15   LCN6   LCN8   LCNL1   LHX3   LINC01451   LINC02692   LRRC26   MAMDC4   MAN1B1   MAN1B1-DT   MIR126   MIR3621   MIR4292   MIR4479   MIR4673   MIR4674   MIR602   MIR6722   MIR7114   MRPL41   NACC2   NALT1   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   PAXX   PHPT1   PMPCA   PNPLA7   PTGDS   QSOX2   RABL6   RNF208   RNF224   SAPCD2   SEC16A   SLC34A3   SNAPC4   SNHG7   SNORA17A   SNORA17B   SSNA1   STPG3   STPG3-AS1   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TUBB4B   UAP1L1   ZMYND19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_136015976)_(138124532_?)del
NC_000009.11:g.(?_138907822)_(141018984_?)del
NC_000009.10:g.(?_138047643)_(140138805_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389136,015,976 - 138,124,532CLINVAR
GRCh379138,907,822 - 141,018,984CLINVAR
Build 369138,047,643 - 140,138,805CLINVAR
Cytogenetic Map99q34.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619907
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.