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Variant : CV72209 (GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1) Homo sapiens

Symbol: CV72209
Name: GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|See cases [RCV000051347]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CRYL1   EEF1AKMT1   FGF9   GJA3   GJB2   GJB6   IFT88   IL17D   LATS2   LINC00367   LINC00424   LINC00539   LINC00540   LINC01046   LINC01072   MICU2   MIR4499   MRPL57   RNU6-59P   SAP18   SKA3   XPO4   ZDHHC20   ZMYM2   ZMYM5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_19837195)_(22574567_?)del
NC_000013.10:g.(?_20411335)_(23148706_?)del
NC_000013.9:g.(?_19309335)_(22046706_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381319,837,195 - 22,574,567CLINVAR
GRCh371320,411,335 - 23,148,706CLINVAR
Build 361319,309,335 - 22,046,706CLINVAR
Cytogenetic Map1313q12.11CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618368
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.