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Variant : CV74023 (GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1) Homo sapiens

Symbol: CV74023
Name: GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1
Condition: Global developmental delay [RCV000053270]|See cases [RCV000053270]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCY9   ALG1   ANKS3   BICDL2   C16orf71   C16orf89   C16orf90   C16orf96   CDIP1   CLDN6   CLDN9   CLUAP1   CORO7   CORO7-PAM16   CREBBP   DNAJA3   DNASE1   EEF2KMT   FLYWCH1   FLYWCH2   GLIS2   GLIS2-AS1   GLYR1   HCFC1R1   HMOX2   IL32   KREMEN2   LINC00514   LINC00921   LINC01569   LINC01570   LINC02164   LINC02861   MEFV   MGRN1   MIR6126   MIR6769A   MIR8065   MMP25   MMP25-AS1   MTRNR2L4   NAA60   NAGPA   NAGPA-AS1   NLRC3   NMRAL1   NUDT16L1   OR1F1   OR2C1   PAM16   PAQR4   PKMYT1   PPL   PRSS22   RBFOX1   ROGDI   SEC14L5   SEPTIN12   SLX4   SMIM22   SRL   TFAP4   THOC6   TIGD7   TNFRSF12A   TRAP1   TRK-CTT2-5   TRK-CTT3-1   TRK-CTT4-1   TRK-CTT5-1   TRP-AGG1-1   TRP-AGG2-7   TRP-AGG2-8   TRP-CGG1-2   TRP-TGG3-3   TRP-TGG3-4   TRP-TGG3-5   TRR-CCG1-3   TRR-CCT3-1   TRR-CCT5-1   UBALD1   UBN1   VASN   ZNF174   ZNF200   ZNF205   ZNF205-AS1   ZNF213   ZNF213-AS1   ZNF263   ZNF500   ZNF597   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_2850734)_(7110697_?)del
Human AssemblyChrPosition (strand)Source
GRCh38162,850,734 - 7,110,697CLINVAR
GRCh37162,900,735 - 7,160,698CLINVAR
Build 36162,840,736 - 7,100,699CLINVAR
Cytogenetic Map1616p13.3CLINVAR
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: 8620207
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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