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Variant : CV74326 (GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3) Homo sapiens

Symbol: CV74326
Name: GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANO9   AP2A2   ASCL2   B4GALNT4   BET1L   BRSK2   C11orf21   CARS1   CD151   CD81   CD81-AS1   CDHR5   CDKN1C   CEND1   CHID1   CRACR2B   CTSD   DEAF1   DRD4   DUSP8   EPS8L2   FAM99A   FAM99B   GATD1   H19   HRAS   IFITM1   IFITM10   IFITM2   IFITM3   IFITM5   IGF2   IGF2-AS   INS   INS-IGF2   IRF7   KCNQ1   KCNQ1-AS1   KCNQ1DN   KCNQ1OT1   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-5   KRTAP5-6   KRTAP5-AS1   LINC01150   LINC01219   LMNTD2   LRRC56   LSP1   MIR210   MIR210HG   MIR4298   MIR4686   MIR483   MIR6743   MIR6744   MIR675   MIR7847   MOB2   MRGPRE   MRGPRG   MRGPRG-AS1   MRPL23   MRPL23-AS1   MUC2   MUC5AC   MUC5B   MUC6   NAP1L4   NLRP6   ODF3   OSBPL5   PANO1   PGGHG   PHLDA2   PHRF1   PIDD1   PKP3   PNPLA2   POLR2L   PRR33   PSMD13   PTDSS2   RASSF7   RIC8A   RNH1   RPLP2   SCT   SIGIRR   SIRT3   SLC22A18   SLC22A18AS   SLC25A22   SNORA52   SNORA54   SNORD131   SYT8   TALDO1   TH   TMEM80   TNNI2   TNNT3   TOLLIP   TOLLIP-AS1   TRPM5   TSPAN32   TSPAN4   TSSC2   TSSC4   ZNF195  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_196966)_(3624139_?)dup
NC_000011.9:g.(?_196966)_(3645369_?)dup
NC_000011.8:g.(?_186966)_(3601945_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811196,966 - 3,624,139CLINVAR
GRCh3711196,966 - 3,645,369CLINVAR
Build 3611186,966 - 3,601,945CLINVAR
Cytogenetic Map1111p15.5-15.4CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620515
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.