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Variant : CV71593 (GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1) Homo sapiens

Symbol: CV71593
Name: GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1
Condition: Global developmental delay [RCV000050540]|See cases [RCV000050540]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPRHL1   ANKRD10   ANKRD10-IT1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   C13orf46   CARS2   CDC16   CFAP97D2   CHAMP1   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   CUL4A   DCUN1D2   F10   F10-AS1   F7   GAS6   GAS6-AS1   GAS6-DT   GRK1   GRTP1   GRTP1-AS1   ING1   IRS2   LAMP1   LINC00354   LINC00368   LINC00370   LINC00396   LINC00399   LINC00431   LINC00452   LINC00454   LINC00552   LINC00565   LINC00567   LINC00676   LINC01043   LINC01044   LINC01070   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   MIR4502   MIR548AR   MIR8073   MIR8075   MYO16   MYO16-AS1   NAXD   PCID2   PRECSIT   PROZ   RAB20   RASA3   SOX1   SOX1-OT   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TUBGCP3   UPF3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_108743171)_(114327173_?)del
NC_000013.10:g.(?_109395519)_(115085141_?)del
NC_000013.9:g.(?_108193520)_(114110750_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3813108,743,171 - 114,327,173CLINVAR
GRCh3713109,395,519 - 115,085,141CLINVAR
Build 3613108,193,520 - 114,110,750CLINVAR
Cytogenetic Map1313q33.3-34CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617677
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.