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Variant : CV164610 (GRCh38/hg38 11p15.5(chr11:196855-2116185)x3) Homo sapiens

Symbol: CV164610
Name: GRCh38/hg38 11p15.5(chr11:196855-2116185)x3
Condition: See cases [RCV000142923]
Clinical Significance: pathogenic
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANO9   AP2A2   B4GALNT4   BET1L   BRSK2   CD151   CDHR5   CEND1   CHID1   CRACR2B   CTSD   DEAF1   DRD4   DUSP8   EPS8L2   FAM99A   FAM99B   GATD1   H19   HRAS   IFITM1   IFITM10   IFITM2   IFITM3   IFITM5   IRF7   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-4   KRTAP5-5   KRTAP5-6   KRTAP5-AS1   LINC01150   LINC01219   LINC02688   LMNTD2   LMNTD2-AS1   LRRC56   LSP1   MIR210   MIR210HG   MIR4298   MIR6743   MIR6744   MIR675   MIR7847   MOB2   MRPL23   MRPL23-AS1   MUC2   MUC5AC   MUC5B   MUC5B-AS1   MUC6   NLRP6   ODF3   PANO1   PGGHG   PHRF1   PIDD1   PKP3   PNPLA2   POLR2L   PRR33   PSMD13   PTDSS2   RASSF7   RIC8A   RNH1   RPLP2   SCT   SIGIRR   SIRT3   SLC25A22   SNORA52   SNORD131   SYT8   TALDO1   TMEM80   TNNI2   TNNT3   TOLLIP   TOLLIP-AS1   TSPAN4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_196855)_(2116185_?)dup
NC_000011.9:g.(?_196855)_(2137415_?)dup
NC_000011.8:g.(?_186855)_(2093991_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811196,855 - 2,116,185CLINVAR
GRCh3711196,855 - 2,137,415CLINVAR
Build 3611186,855 - 2,093,991CLINVAR
Cytogenetic Map1111p15.5CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490521
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.