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Variant : CV75007 (GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1) Homo sapiens

Symbol: CV75007
Name: GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCK5   ARHGAP39   BOP1   C8orf33   C8orf82   COMMD5   CPSF1   CYC1   CYHR1   DGAT1   EXOSC4   FBXL6   FOXH1   GPAA1   GPT   HGH1   HSF1   KIFC2   LRRC14   LRRC24   MAF1   MFSD3   MIR1234   MIR6846   MIR6847   MIR6848   MIR6849   MIR6850   MIR6893   MIR7112   MIR939   MROH1   OPLAH   PPP1R16A   RECQL4   RPL8   SCRT1   SCX   SHARPIN   SLC39A4   SLC52A2   SMPD5   SPATC1   TMEM249   TONSL   TONSL-AS1   VPS28   WDR97   ZNF16   ZNF250   ZNF251   ZNF252P-AS1   ZNF34   ZNF517   ZNF7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_144002471)_(145054775_?)del
NC_000008.10:g.(?_145076639)_(146280161_?)del
NC_000008.9:g.(?_145148627)_(146250965_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388144,002,471 - 145,054,775CLINVAR
GRCh378145,076,639 - 146,280,161CLINVAR
Build 368145,148,627 - 146,250,965CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621201
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.