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Variant : CV159413 (GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3) Homo sapiens

Symbol: CV159413
Name: GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3
Condition: See cases [RCV000138645]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOXL   BUB1   C2orf49   CCDC138   CD8B2   ECRG4   EDAR   FHL2   GACAT1   GCC2   GCC2-AS1   GPR45   IL18R1   IL18RAP   IL1R1   IL1R2   IL1RL1   IL1RL2   LIMS1   LIMS1-AS1   LIMS3   LIMS4   LINC01102   LINC01103   LINC01106   LINC01114   LINC01123   LINC01127   LINC01159   LINC01593   LINC01594   LINC01789   LINC01796   LINC01831   LINC01885   LINC01886   LINC01918   LINC01935   MALL   MAP4K4   MFSD9   MIR4265   MIR4266   MIR4267   MIR4436B1   MIR4436B2   MIR4772   MRPS9   MRPS9-AS1   MRPS9-AS2   MTLN   NCK2   NPHP1   PANTR1   POU3F3   RANBP2   RGPD3   RGPD4   RGPD4-AS1   RGPD5   RGPD6   SEPTIN10   SH3RF3   SH3RF3-AS1   SLC5A7   SLC9A2   SLC9A4   SNORD132   SOWAHC   ST6GAL2   SULT1C2   SULT1C3   SULT1C4   TGFBRAP1   TMEM182   UXS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_101710825)_(110791418_?)dup
NC_000002.11:g.(?_102327287)_(111548995_?)dup
NC_000002.10:g.(?_101693719)_(111265466_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382101,710,825 - 110,791,418CLINVAR
GRCh372102,327,287 - 111,548,995CLINVAR
Build 362101,693,719 - 111,265,466CLINVAR
Cytogenetic Map22q11.2-13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486184
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.