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Variant : CV73308 (GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1) Homo sapiens

Symbol: CV73308
Name: GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACBD7   ADARB2   ADARB2-AS1   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ASB13   ATP5F1C   BEND7   CALML3   CALML3-AS1   CALML5   CAMK1D   CCDC3   CDC123   CDNF   CELF2   CELF2-AS1   CELF2-AS2   DCLRE1C   DHTKD1   DIP2C   DIP2C-AS1   ECHDC3   FAM107B   FAM171A1   FBH1   FRMD4A   GATA3   GATA3-AS1   GDI2   GTPBP4   HSPA14   IDI1   IDI2   IDI2-AS1   IL15RA   IL2RA   ITGA8   ITIH2   ITIH5   KIN   KLF6   LARP4B   LINC00200   LINC00700   LINC00701   LINC00702   LINC00703   LINC00705   LINC00706   LINC00707   LINC00708   LINC00709   LINC00710   MANCR   MCM10   MEIG1   MIR1265   MIR3155A   MIR3155B   MIR4293   MIR4480   MIR4481   MIR548AK   MIR548Q   MIR5699   MIR6072   MIR6078   NET1   NMT2   NUDT5   OLAH   OPTN   PFKFB3   PFKP   PHYH   PITRM1   PITRM1-AS1   PRKCQ   PRKCQ-AS1   PROSER2   PROSER2-AS1   PRPF18   RBM17   RPP38   RPP38-DT   SEC61A2   SEPHS1   SFMBT2   SNORD129   SNORD142   SUV39H2   TAF3   TASOR2   TRV-TAC3-1   TUBAL3   UCMA   UCN3   UPF2   USP6NL   WDR37   ZMYND11  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_90421)_(15569528_?)del
NC_000010.10:g.(?_224406)_(15611527_?)del
NC_000010.9:g.(?_126361)_(15651533_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381090,421 - 15,569,528CLINVAR
GRCh3710224,406 - 15,611,527CLINVAR
Build 3610126,361 - 15,651,533CLINVAR
Cytogenetic Map1010p15.3-13CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619476
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.