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Variant : CV72719 (GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3) Homo sapiens

Symbol: CV72719
Name: GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051869]|See cases [RCV000051869]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADTRP   ATXN1   ATXN1-AS1   BLOC1S5   BLOC1S5-TXNDC5   BMP6   BPHL   C6orf201   C6orf52   CAGE1   CAP2   CD83   CDYL   CDYL-AS1   DEK   DSP   DTNBP1   DUSP22   ECI2   ECI2-DT   EDN1   EEF1E1   EEF1E1-BLOC1S5   ELOVL2   ELOVL2-AS1   ERVFRD-1   EXOC2   F13A1   FAM217A   FAM50B   FAM8A1   FARS2   FOXC1   FOXCUT   FOXF2   FOXQ1   GCM2   GCNT2   GFOD1   GMDS   GMDS-DT   GMPR   HIVEP1   HULC   HUS1B   IRF4   JARID2   JARID2-AS1   KDM1B   KIF13A   KU-MEL-3   LINC00266-3   LINC00518   LINC01011   LINC01108   LINC01394   LINC01600   LINC01622   LINC02521   LINC02522   LINC02525   LINC02530   LINC02533   LINC02543   LOC285766   LY86   LY86-AS1   LYRM4   LYRM4-AS1   MAK   MCUR1   MIR3691   MIR4639   MIR4645   MIR5683   MIR5689   MIR5689HG   MIR6720   MIR7853   MYLIP   MYLK4   NEDD9   NHLRC1   NOL7   NQO2   NQO2-AS1   NRN1   NUP153   OFCC1   PAK1IP1   PHACTR1   PPP1R3G   PRPF4B   PSMG4   PXDC1   RANBP9   RBM24   RIOK1   RIPK1   RNF182   RPP40   RREB1   SCARNA27   SERPINB1   SERPINB6   SERPINB9   SIRT5   SLC22A23   SLC35B3   SMIM13   SNRNP48   SSR1   STMND1   SYCP2L   TBC1D7   TFAP2A   TFAP2A-AS1   TFAP2A-AS2   TMEM14B   TMEM14C   TMEM170B   TPMT   TUBB2A   TUBB2B   TXNDC5   WRNIP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_106431)_(18360595_?)dup
NC_000006.11:g.(?_106431)_(18360826_?)dup
NC_000006.10:g.(?_51431)_(18468805_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh386106,431 - 18,360,595CLINVAR
GRCh376106,431 - 18,360,826CLINVAR
Build 36651,431 - 18,468,805CLINVAR
Cytogenetic Map66p25.3-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618880
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.