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Variant : CV74492 (GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3) Homo sapiens

Symbol: CV74492
Name: GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOD1   BORA   BTF3P11   CLN5   COMMD6   DACH1   DIS3   EDNRB   EDNRB-AS1   FBXL3   KCTD12   KLF12   KLF5   LINC00331   LINC00347   LINC00377   LINC00381   LINC00382   LINC00392   LINC00393   LINC00402   LINC00446   LINC00564   LINC01038   LINC01068   LINC01069   LINC01078   LINC01080   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   MIR3665   MYCBP2   MYCBP2-AS1   MZT1   NDFIP2   NDFIP2-AS1   OBI1   OBI1-AS1   PIBF1   POU4F1   RBM26   RBM26-AS1   RNU6-66P   RNU6-79P   SCEL   SCEL-AS1   SLAIN1   SPRY2   TBC1D4   UCHL3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_71509212)_(82146085_?)dup
NC_000013.10:g.(?_72083344)_(82720220_?)dup
NC_000013.9:g.(?_70981345)_(81618221_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381371,509,212 - 82,146,085CLINVAR
GRCh371372,083,344 - 82,720,220CLINVAR
Build 361370,981,345 - 81,618,221CLINVAR
Cytogenetic Map1313q21.33-31.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620683
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.