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Variant : CV73705 (GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3) Homo sapiens

Symbol: CV73705
Name: GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|See cases [RCV000052908]
Clinical Significance: likely pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACP5   ANGPTL6   ANGPTL8   AP1M2   ATG4D   BEST2   C19orf38   CACNA1A   CALR   CARM1   CCDC151   CCDC159   CDC37   CDKN2D   CNN1   COL5A3   DAND5   DHPS   DNASE2   DNM2   DNMT1   DOCK6   ECSIT   EIF3G   ELAVL3   ELOF1   EPOR   FARSA   FARSA-AS1   FBXL12   FBXW9   FDX2   GADD45GIP1   GCDH   GET3   GNG14   HOOK2   ICAM1   ICAM3   ICAM4   ICAM5   IER2   ILF3   ILF3-DT   JUNB   KANK2   KEAP1   KLF1   KRI1   LDLR   LYL1   MAN2B1   MAST1   MBD3L1   MIR1181   MIR1238   MIR199A1   MIR4322   MIR4748   MIR5589   MIR5684   MIR5695   MIR638   MIR6515   MIR6793   MIR6794   MIR6886   MIR7974   MRPL4   MUC16   NACC1   NFIX   OLFM2   OR1M1   OR7D2   OR7D4   OR7E24   OR7G1   OR7G2   OR7G3   P2RY11   PDE4A   PIN1   PLPPR2   PPAN   PPAN-P2RY11   PRDX2   PRKCSH   QTRT1   RAB3D   RAD23A   RAVER1   RDH8   RGL3   RNASEH2A   RTBDN   S1PR2   S1PR5   SHFL   SLC44A2   SMARCA4   SNORD105   SNORD105B   SNORD135   SNORD41   SPC24   STX10   SWSAP1   SYCE2   TIMM29   TMED1   TMEM205   TNPO2   TRIR   TRMT1   TSPAN16   TYK2   UBL5   WDR83   WDR83OS   YIPF2   ZGLP1   ZNF121   ZNF136   ZNF177   ZNF20   ZNF266   ZNF317   ZNF426   ZNF426-DT   ZNF433   ZNF433-AS1   ZNF439   ZNF44   ZNF440   ZNF441   ZNF442   ZNF443   ZNF490   ZNF491   ZNF558   ZNF559   ZNF559-ZNF177   ZNF560   ZNF561   ZNF561-AS1   ZNF562   ZNF563   ZNF564   ZNF625   ZNF625-ZNF20   ZNF627   ZNF653   ZNF69   ZNF699   ZNF700   ZNF709   ZNF763   ZNF788P   ZNF791   ZNF799   ZNF823   ZNF844   ZNF846   ZNF878  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_8831147)_(13331227_?)dup
NC_000019.9:g.(?_8941823)_(13442041_?)dup
NC_000019.8:g.(?_8802823)_(13303041_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38198,831,147 - 13,331,227CLINVAR
GRCh37198,941,823 - 13,442,041CLINVAR
Build 36198,802,823 - 13,303,041CLINVAR
Cytogenetic Map1919p13.2-13.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619878
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.