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Variant : CV72463 (GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1) Homo sapiens

Symbol: CV72463
Name: GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1
Condition: Global developmental delay [RCV000051608]|See cases [RCV000051608]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAP2   ADIPOQ   ADIPOQ-AS1   AHSG   APOD   ATP13A3   ATP13A4   ATP13A4-AS1   ATP13A5   ATP13A5-AS1   BCL6   BDH1   CCDC50   CEP19   CLDN1   CLDN16   CPN2   CRYGS   DGKG   DLG1   DLG1-AS1   DNAJB11   EIF4A2   ETV5   FAM43A   FBXO45   FETUB   FGF12   FGF12-AS1   FGF12-AS2   FGF12-AS3   FLJ42393   FYTTD1   GMNC   GP5   HES1   HRG   IGF2BP2   IGF2BP2-AS1   IL1RAP   IQCG   KNG1   LINC00884   LINC00885   LINC00887   LINC01063   LINC01968   LINC01972   LINC01983   LINC01991   LINC02012   LINC02013   LINC02020   LINC02026   LINC02028   LINC02036   LINC02037   LINC02038   LINC02041   LINC02043   LINC02048   LINC02052   LIPH   LMLN   LMLN-AS1   LPP   LPP-AS1   LPP-AS2   LRCH3   LRRC15   LSG1   MAP3K13   MASP1   MB21D2   MELTF   MELTF-AS1   MIR1248   MIR28   MIR3137   MIR4797   MIR548AQ   MIR570   MIR570HG   MIR6829   MIR922   MIR944   MUC20   MUC4   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   OPA1   OPA1-AS1   OSTN   OSTN-AS1   P3H2   P3H2-AS1   PAK2   PCYT1A   PIGX   PIGZ   PLAAT1   PPP1R2   PYDC2   RFC4   RNF168   RPL35A   RPL39L   RTP1   RTP2   RTP4   RUBCN   SENP2   SENP5   SLC51A   SMCO1   SNAR-I   SNORA4   SNORA63   SNORA63B   SNORA81   SNORD2   SST   ST6GAL1   TBCCD1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TMEM207   TMEM41A   TMEM44   TMEM44-AS1   TNK2   TNK2-AS1   TP63   TPRG1   TPRG1-AS1   TPRG1-AS2   TRA2B   UBXN7   UBXN7-AS1   UTS2B   WDR53   XXYLT1   XXYLT1-AS1   XXYLT1-AS2   ZDHHC19  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_185485849)_(198110178_?)del
Human AssemblyChrPosition (strand)Source
GRCh383185,485,849 - 198,110,178CLINVAR
GRCh373185,203,637 - 197,837,049CLINVAR
Build 363186,686,331 - 199,321,446CLINVAR
Cytogenetic Map33q27.2-29CLINVAR
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: 8618623
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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