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Variant : CV72271 (GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1) Homo sapiens

Symbol: CV72271
Name: GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051414]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051414]|See cases [RCV000051414]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   DCT   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR180   LINC00333   LINC00351   LINC00353   LINC00363   LINC00373   LINC00375   LINC00379   LINC00380   LINC00397   LINC00410   LINC00430   LINC00433   LINC00440   LINC00557   LINC00559   LINC00560   LINC01040   LINC01047   LINC01049   LINC02336   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500   MIR4500HG   MIR548AS   MIR622   MIR92A1   SLITRK5   SLITRK6   SNORA107   SOX21   SOX21-AS1   TGDS   TRF-GAA1-5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_83947821)_(95128969_?)del
NC_000013.10:g.(?_84521956)_(95781223_?)del
NC_000013.9:g.(?_83419957)_(94579224_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381383,947,821 - 95,128,969CLINVAR
GRCh371384,521,956 - 95,781,223CLINVAR
Build 361383,419,957 - 94,579,224CLINVAR
Cytogenetic Map1313q31.1-32.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618431
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.