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Variant : CV74087 (GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1) Homo sapiens

Symbol: CV74087
Name: GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AARS1   ACD   AGRP   ATP6V0D1   B3GNT9   BEAN1   BEAN1-AS1   C16orf70   C16orf86   CA7   CARMIL2   CBFB   CDH1   CDH11   CDH16   CDH3   CDH5   CENPT   CES2   CES3   CES4A   CHTF8   CIAO2B   CKLF   CKLF-CMTM1   CLEC18A   CLEC18C   CMTM1   CMTM2   CMTM3   CMTM4   COG4   COG8   CTCF   CTRL   CYB5B   DDX19A   DDX19B   DDX28   DPEP2   DPEP3   DUS2   DYNC1LI2   E2F4   EDC4   ELMO3   ENKD1   ESRP2   EXOC3L1   EXOSC6   FBXL8   FCSK   FHOD1   GFOD2   HAS3   HSD11B2   HSF4   KCTD19   KIAA0895L   LCAT   LINC00920   LINC00922   LINC02126   LRRC29   LRRC36   MIR140   MIR1538   MIR1972-2   MIR328   MIR6773   NAE1   NFAT5   NFATC3   NIP7   NOB1   NOL3   NQO1   NRN1L   NUTF2   PARD6A   PDF   PDP2   PDPR   PLA2G15   PLEKHG4   PRMT7   PSKH1   PSMB10   RANBP10   RIPOR1   RNU6-23P   RRAD   SF3B3   SLC12A4   SLC7A6   SLC7A6OS   SLC9A5   SMPD3   SNORD111   SNORD111B   SNTB2   ST3GAL2   TANGO6   TERB1   TERF2   THAP11   TK2   TMED6   TMEM208   TPPP3   TRADD   TSNAXIP1   UTP4   VPS4A   WWP2   ZDHHC1   ZFP90  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_63318997)_(70555249_?)del
NC_000016.9:g.(?_63352901)_(70589152_?)del
NC_000016.8:g.(?_61910402)_(69146653_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381663,318,997 - 70,555,249CLINVAR
GRCh371663,352,901 - 70,589,152CLINVAR
Build 361661,910,402 - 69,146,653CLINVAR
Cytogenetic Map1616q21-22.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620271
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.