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Variant : CV73167 (GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1) Homo sapiens

Symbol: CV73167
Name: GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATP12A   C1QTNF9   C1QTNF9B   CENPJ   CRYL1   EEF1AKMT1   FGF9   GJA3   GJB2   GJB6   IFT88   IL17D   LATS2   LINC00327   LINC00367   LINC00424   LINC00539   LINC00540   LINC00566   LINC00621   LINC01046   LINC01072   MICU2   MIPEP   MIR2276   MIR4499   MRPL57   PARP4   PCOTH   RNF17   RNU6-58P   RNU6-59P   SACS   SACS-AS1   SAP18   SGCG   SKA3   SPATA13   SPATA13-AS1   TNFRSF19   XPO4   ZDHHC20   ZMYM2   ZMYM5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_19837395)_(24884509_?)del
NC_000013.10:g.(?_20411535)_(25458647_?)del
NC_000013.9:g.(?_19309535)_(24356647_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381319,837,395 - 24,884,509CLINVAR
GRCh371320,411,535 - 25,458,647CLINVAR
Build 361319,309,535 - 24,356,647CLINVAR
Cytogenetic Map1313q12.11-12.12CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619334
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.