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Variant : CV74998 (GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1) Homo sapiens

Symbol: CV74998
Name: GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1
Condition: Global developmental delay [RCV000054301]|See cases [RCV000054301]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AARD   ANXA13   ATAD2   C8orf76   CCN3   COL14A1   COLEC10   CSMD3   DEPTOR   DERL1   DSCC1   EIF3H   ENPP2   EXT1   FAM83A   FAM83A-AS1   FAM91A1   FBXO32   FER1L6   FER1L6-AS1   FER1L6-AS2   HAS2   HAS2-AS1   KLHL38   LINC00536   LINC00861   LINC00964   LINC01151   LINC02855   LRATD2   MAL2   MAL2-AS1   MED30   MIR3610   MIR4662A   MIR4662B   MIR4663   MIR548AA1   MIR548AZ   MIR548D1   MIR6844   MRPL13   MTBP   MTSS1   NDUFB9   NSMCE2   RAD21   RAD21-AS1   RNF139   RNF139-AS1   SAMD12   SAMD12-AS1   SLC30A8   SMILR   SNORD168   SNTB1   SQLE   TAF2   TATDN1   TBC1D31   TMEM65   TNFRSF11B   TRIB1   TRM-CAT1-1   TRMT12   TRPS1   UTP23   WASHC5   WDYHV1   ZHX1   ZHX1-C8orf76   ZHX2   ZNF572  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_113288454)_(126716087_?)del
Human AssemblyChrPosition (strand)Source
GRCh388113,288,454 - 126,716,087CLINVAR
GRCh378114,300,683 - 127,728,332CLINVAR
Build 368114,369,859 - 127,797,514CLINVAR
Cytogenetic Map88q23.3-24.21CLINVAR
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
RGD Object Information
RGD ID: 8621192
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.