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Variant : CV73317 (GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1) Homo sapiens

Symbol: CV73317
Name: GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: A1CF   AGAP4   AGAP6   AGAP7P   AGAP9   ALOX5   ANK3   ANTXRL   ANXA8   ANXA8L1   ARHGAP22   ASAH2   ASAH2B   BICC1   BMS1   C10orf53   C10orf71   C10orf71-AS1   CCDC6   CCEPR   CHAT   CISD1   CSGALNACT2   CSTF2T   CXCL12   DEPP1   DKK1   DRGX   ERCC6   FAM13C   FAM170B   FAM170B-AS1   FAM25C   FAM25E   FAM25G   FRMPD2   FXYD4   GDF10   GDF2   GPRIN2   HNRNPF   IPMK   LINC00619   LINC00839   LINC00840   LINC00841   LINC00842   LINC00844   LINC01264   LINC01518   LINC01553   LINC02881   LNCAROD   LRRC18   MAPK8   MARCHF8   MBL2   MIR3156-1   MIR3924   MIR4294   MIR5100   MIR548F1   MIR605   MRLN   MSMB   MTRNR2L5   NCOA4   NPY4R   NPY4R2   OGDHL   OR13A1   PARG   PCDH15   PGBD3   PHYHIPL   PRKG1   PRKG1-AS1   PTPN20   RASGEF1A   RASSF4   RBP3   RET   SGMS1   SGMS1-AS1   SLC16A9   SLC18A3   SYT15   TFAM   TIMM23   TIMM23B   TMEM273   TMEM72   TMEM72-AS1   UBE2D1   VSTM4   WASHC2A   WASHC2C   WDFY4   ZFAND4   ZNF22   ZNF22-AS1   ZNF239   ZNF32   ZNF32-AS1   ZNF32-AS2   ZNF32-AS3   ZNF33B   ZNF485   ZNF487   ZNF488   ZWINT  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_42335305)_(60284876_?)del
NC_000010.10:g.(?_42830753)_(62044634_?)del
NC_000010.9:g.(?_42150759)_(61714640_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381042,335,305 - 60,284,876CLINVAR
GRCh371042,830,753 - 62,044,634CLINVAR
Build 361042,150,759 - 61,714,640CLINVAR
Cytogenetic Map1010q11.21-21.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619485
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.