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Variant : CV74497 (GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3) Homo sapiens

Symbol: CV74497
Name: GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053773]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053773]|See cases [RCV000053773]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANP32B   AOPEP   BARX1   BARX1-DT   BICD2   C9orf129   CARD19   CCDC180   CDC14B   CENPP   CORO2A   CTSV   ERCC6L2   FAM120A   FAM120AOS   FANCC   FBP1   FBP2   FGD3   FOXE1   HABP4   HEMGN   HSD17B3   HSD17B3-AS1   IPPK   LINC00092   LINC00476   LINC02603   MFSD14B   MFSD14C   MIR1302-8   MIR2278   MIR23B   MIR24-1   MIR27B   MIR3074   MIR4291   MIR548AU   MIR6081   MIRLET7A1   MIRLET7D   MIRLET7F1   NANS   NCBP1   NINJ1   NUTM2F   NUTM2G   PCAT7   PHF2   PRXL2C   PTCH1   PTCSC2   PTPDC1   SLC35D2   SUGT1P4-STRA6LP-CCDC180   SUSD3   TDRD7   TMOD1   TRIM14   TRMO   TSTD2   WNK2   XPA   ZNF169   ZNF367   ZNF484   ZNF510   ZNF782  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_92561720)_(98122580_?)dup
NC_000009.11:g.(?_95324002)_(100884862_?)dup
NC_000009.10:g.(?_94363823)_(99924683_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38992,561,720 - 98,122,580CLINVAR
GRCh37995,324,002 - 100,884,862CLINVAR
Build 36994,363,823 - 99,924,683CLINVAR
Cytogenetic Map99q22.31-22.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620688
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.