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Variant : CV73726 (GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3) Homo sapiens

Symbol: CV73726
Name: GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052931]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052931]|See cases [RCV000052931]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACP1   ADAM17   ADI1   ALKAL2   ALLC   ASAP2   ATP6V1C2   C2orf50   CMPK2   COLEC11   CPSF3   CYS1   DCDC2C   E2F6   EIPR1   FAM110C   FLJ33534   GREB1   GRHL1   HPCAL1   IAH1   ID2   ID2-AS1   ITGB1BP1   KCNF1   KIDINS220   KLF11   LINC00276   LINC00298   LINC00299   LINC00487   LINC00570   LINC01115   LINC01246   LINC01247   LINC01248   LINC01249   LINC01250   LINC01304   LINC01810   LINC01814   LINC01865   LINC01871   LINC01874   LINC01875   LINC01939   LINC01954   LOC400940   LPIN1   LRATD1   MBOAT2   MIR3125   MIR3681   MIR3681HG   MIR4261   MIR4262   MIR4429   MIR548S   MIR7158   MIR7515   MIR7515HG   MYT1L   MYT1L-AS1   NOL10   NRIR   NTSR2   ODC1   ODC1-DT   PDIA6   PXDN   RNASEH1   RNASEH1-AS1   RNF144A   RNF144A-AS1   ROCK2   RPS7   RRM2   RSAD2   SH3YL1   SILC1   SLC66A3   SNORA80B   SNTG2   SNTG2-AS1   SOX11   TAF1B   TMEM18   TMEM18-DT   TPO   TRAPPC12   TRIB2   YWHAQ  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_30342)_(14866951_?)dup
NC_000002.11:g.(?_30342)_(15007075_?)dup
NC_000002.10:g.(?_20342)_(14924526_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38230,342 - 14,866,951CLINVAR
GRCh37230,342 - 15,007,075CLINVAR
Build 36220,342 - 14,924,526CLINVAR
Cytogenetic Map22p25.3-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619900
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.