GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3Chinchilla Research Resource Database
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Variant : CV74255 (GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3) Homo sapiens

Symbol: CV74255
Name: GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3
CRRD ID: 8620441
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADARB2   ADARB2-AS1   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ASB13   CALML3   CALML3-AS1   CALML5   DIP2C   DIP2C-AS1   FBH1   GDI2   GTPBP4   IDI1   IDI2   IDI2-AS1   IL15RA   IL2RA   KLF6   LARP4B   LINC00200   LINC00700   LINC00701   LINC00702   LINC00703   LINC00705   LINC00706   LINC00707   MANCR   MIR3155A   MIR3155B   MIR5699   MIR6072   MIR6078   NET1   PFKFB3   PFKP   PITRM1   PITRM1-AS1   PRKCQ   PRKCQ-AS1   RBM17   SNORD142   TASOR2   TRV-TAC3-1   TUBAL3   UCN3   WDR37   ZMYND11  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_90421)_(7085100_?)dup
NC_000010.10:g.(?_224406)_(7127062_?)dup
NC_000010.9:g.(?_126361)_(7167068_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381090,421 - 7,085,100CLINVAR
GRCh3710224,406 - 7,127,062CLINVAR
Build 3610126,361 - 7,167,068CLINVAR
Cytogenetic Map1010p15.3-14CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information