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Variant : CV75030 (GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1) Homo sapiens

Symbol: CV75030
Name: GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|See cases [RCV000054335]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALKBH5   ATPAF2   CCDC144A   COPS3   DRC3   DRG2   FAM106C   FLCN   GID4   KRT17P1   LINC02090   LRRC75A   MED9   MIR33B   MIR6777   MPRIP   MYO15A   NT5M   PEMT   PLD6   RAI1   RAI1-AS1   RASD1   SMCR2   SMCR5   SNHG29   SNORD49A   SNORD49B   SNORD65   SREBF1   TBC1D27P   TNFRSF13B   TOM1L2   TRPV2   UBB   ZNF287   ZNF624  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_16361086)_(18219405_?)del
NC_000017.10:g.(?_16264400)_(18122719_?)del
NC_000017.9:g.(?_16205125)_(18063444_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381716,361,086 - 18,219,405CLINVAR
GRCh371716,264,400 - 18,122,719CLINVAR
Build 361716,205,125 - 18,063,444CLINVAR
Cytogenetic Map1717p11.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621224
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.