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Variant : CV72278 (GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1) Homo sapiens

Symbol: CV72278
Name: GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD13   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   BIVM   BIVM-ERCC5   CARS2   CCDC168   CDC16   CHAMP1   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   CUL4A   DAOA   DAOA-AS1   DCUN1D2   EFNB2   ERCC5   F10   F10-AS1   F7   FAM155A   FAM155A-IT1   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GAS6   GAS6-AS1   GAS6-DT   GRK1   GRTP1   GRTP1-AS1   ING1   IRS2   ITGBL1   LAMP1   LIG4   LINC00343   LINC00354   LINC00368   LINC00370   LINC00396   LINC00399   LINC00431   LINC00443   LINC00452   LINC00454   LINC00460   LINC00551   LINC00552   LINC00565   LINC00567   LINC00676   LINC01043   LINC01044   LINC01070   LINC01309   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   METTL21C   MIR1267   MIR2681   MIR4502   MIR4705   MIR548AR   MIR8073   MIR8075   MYO16   MYO16-AS1   NALCN   NALCN-AS1   NAXD   PCID2   POGLUT2   PRECSIT   PROZ   RAB20   RASA3   SLC10A2   SOX1   SOX1-OT   SPACA7   TEX29   TEX30   TFDP1   TMCO3   TMEM255B   TNFSF13B   TPP2   TUBGCP3   UPF3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.10:g.(?_101587036)_(115085141_?)del
NC_000013.9:g.(?_100385037)_(114110891_?)del
NC_000013.11:g.(?_101049614)_(114327314_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3813101,049,614 - 114,327,314 (+)CLINVAR
GRCh3713101,587,036 - 115,085,141CLINVAR
Build 3613100,385,037 - 114,110,891CLINVAR
Cytogenetic Map1313q32.3-34CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618438
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.