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Variant : CV71744 (GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1) Homo sapiens

Symbol: CV71744
Name: GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050797]|See cases [RCV000050797]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTBL2   ANKRD55   ARL15   C5orf64   C5orf64-AS1   C5orf67   CCNO   CDC20B   DDX4   DEPDC1B   DHX29   DIMT1   ELOVL7   EMB   ERCC8   ERCC8-AS1   ESM1   FST   GAPT   GPBP1   GPX8   GZMA   GZMK   HSPB3   IL31RA   IL6ST   IPO11   ISL1   ITGA1   ITGA2   KIF2A   LINC01033   LINC01948   LINC02057   LINC02101   LINC02105   LINC02106   LINC02108   LINC02118   LINC02225   LRRC70   MAP3K1   MCIDAS   MIER3   MIR449A   MIR449B   MIR449C   MIR548AE2   MIR5687   MIR581   MIR582   MOCS2   MTREX   NDUFAF2   NDUFS4   PARP8   PART1   PDE4D   PELO   PLK2   PLPP1   RAB3C   SETD9   SLC38A9   SMIM15   SMIM15-AS1   SNX18   ZSWIM6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_50288355)_(63149770_?)del
NC_000005.9:g.(?_49584189)_(62445597_?)del
NC_000005.8:g.(?_49619946)_(62481353_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38550,288,355 - 63,149,770CLINVAR
GRCh37549,584,189 - 62,445,597CLINVAR
Build 36549,619,946 - 62,481,353CLINVAR
Cytogenetic Map55q11.1-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617872
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.