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Variant : CV72237 (GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1) Homo sapiens

Symbol: CV72237
Name: GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKAP11   CBY2   CCDC122   COG3   COG6   CPB2   CPB2-AS1   DGKH   DNAJC15   ELF1   ENOX1   ENOX1-AS2   EPSTI1   ERICH6B   ESD   FAM216B   FOXO1   FREM2   FREM2-AS1   GPALPP1   GTF2F2   HTR2A   HTR2A-AS1   KBTBD6   KBTBD7   KCTD4   LACC1   LCP1   LHFPL6   LINC00330   LINC00332   LINC00366   LINC00390   LINC00400   LINC00428   LINC00437   LINC00548   LINC00563   LINC00598   LINC01050   LINC01055   LINC01198   LINC02341   LRCH1   LRRC63   MIR3168   MIR320D1   MIR4305   MIR5006   MIR621   MIR8079   MRPS31   MTRF1   NAA16   NHLRC3   NRAD1   NUFIP1   PROSER1   RGCC   RNU6-56P   RNU6-57P   RNU6-68P   RNU6-69P   RUBCNL   SERP2   SIAH3   SLC25A15   SLC25A30   SLC25A30-AS1   SMIM2   SMIM2-AS1   SMIM2-IT1   SNORA31   STOML3   TNFSF11   TPT1   TPT1-AS1   TRE-TTC1-2   TRE-TTC2-1   TSC22D1   TSC22D1-AS1   TUSC8   VWA8   VWA8-AS1   WBP4   ZC3H13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_38558617)_(47502862_?)del
NC_000013.10:g.(?_39132754)_(48076997_?)del
NC_000013.9:g.(?_38030754)_(46974998_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381338,558,617 - 47,502,862CLINVAR
GRCh371339,132,754 - 48,076,997CLINVAR
Build 361338,030,754 - 46,974,998CLINVAR
Cytogenetic Map1313q13.3-14.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618396
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.