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Variant : CV73119 (GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3) Homo sapiens

Symbol: CV73119
Name: GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCD4   ACOT1   ACOT2   ACOT4   ACOT6   ACYP1   ADCK1   AHSA1   AK7   ALDH6A1   ALKBH1   ANGEL1   AREL1   ASB2   ATG2B   ATXN3   BATF   BBOF1   BCL11B   BDKRB1   BDKRB2   BTBD7   C14orf132   C14orf177   C14orf178   CALM1   CATSPERB   CCDC197   CCDC85C   CCDC88C   CCNK   CEP128   CHGA   CIPC   CLMN   COQ6   COX8C   CPSF2   DCAF4   DDX24   DGLUCY   DICER1   DICER1-AS1   DIO2   DIO2-AS1   DLST   DNAL1   DPF3   EFCAB11   EIF2B2   EML5   ENTPD5   ERG28   ESRRB   FAM161B   FAM181A   FAM181A-AS1   FBLN5   FCF1   FLRT2   FLVCR2   FOS   FOXN3   FOXN3-AS1   FOXN3-AS2   GALC   GLRX5   GOLGA5   GON7   GPATCH2L   GPR65   GPR68   GSC   GSKIP   GSTZ1   GTF2A1   HEATR4   IFI27   IFI27L1   IFI27L2   IFT43   IRF2BPL   ISCA2   ISM2   ITPK1   ITPK1-AS1   JDP2   KCNK10   KCNK13   LGMN   LIN52   LINC00618   LINC00642   LINC00911   LINC01146   LINC01148   LINC01220   LINC01467   LINC01550   LINC01629   LINC02274   LINC02287   LINC02288   LINC02289   LINC02291   LINC02292   LINC02295   LINC02296   LINC02299   LINC02301   LINC02304   LINC02305   LINC02308   LINC02309   LINC02311   LINC02312   LINC02316   LINC02317   LINC02318   LINC02321   LINC02325   LINC02328   LINC02329   LINC02330   LRRC74A   LTBP2   MIDEAS   MIR1260A   MIR3173   MIR4505   MIR4506   MIR4709   MLH3   MOAP1   NDUFB1   NEK9   NGB   NOXRED1   NPC2   NRDE2   NRXN3   NUMB   OTUB2   PAPLN   PAPOLA   PGF   PNMA1   POMT2   PPP4R3A   PPP4R4   PRIMA1   PROX2   PSEN1   PSMC1   PTGR2   PTPN21   RBM25   RIN3   RIOX1   RPS6KA5   RPS6KL1   SAMD15   SCARNA13   SEL1L   SERPINA1   SERPINA10   SERPINA11   SERPINA12   SERPINA2   SERPINA3   SERPINA4   SERPINA5   SERPINA6   SERPINA9   SETD3   SLC24A4   SLIRP   SNHG10   SNORA11B   SNORA79   SNORD3P3   SNW1   SPATA7   SPTLC2   STON2   SYNDIG1L   SYNE3   TC2N   TCL1A   TCL1B   TCL6   TDP1   TGFB3   TMED10   TMED8   TMEM251   TMEM63C   TRA-AGC15-1   TRC-GCA8-1   TRIP11   TSHR   TTC7B   TTC8   TTLL5   TUNAR   UBR7   UNC79   VASH1   VASH1-AS1   VIPAS39   VRK1   VRTN   VSX2   YLPM1   ZC2HC1C   ZC3H14   ZDHHC22   ZFYVE1   ZNF410  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_72787506)_(99596719_?)dup
NC_000014.8:g.(?_73254214)_(100063056_?)dup
NC_000014.7:g.(?_72323967)_(99132809_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381472,787,506 - 99,596,719CLINVAR
GRCh371473,254,214 - 100,063,056CLINVAR
Build 361472,323,967 - 99,132,809CLINVAR
Cytogenetic Map1414q24.2-32.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619286
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.