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Variant : CV72114 (GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1) Homo sapiens

Symbol: CV72114
Name: GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|See cases [RCV000051232]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C1QTNF9   C1QTNF9B   LINC00327   LINC00566   MIPEP   MIR2276   PARP4   PCOTH   RNU6-58P   SACS   SACS-AS1   SGCG   SPATA13   SPATA13-AS1   TNFRSF19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.10:g.(?_23478635)_(25065023_?)del
NC_000013.9:g.(?_22376635)_(23963023_?)del
NC_000013.11:g.(?_22904496)_(24490885_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381322,904,496 - 24,490,885CLINVAR
GRCh371323,478,635 - 25,065,023CLINVAR
Build 361322,376,635 - 23,963,023CLINVAR
Cytogenetic Map1313q12.12CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618269
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.