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Variant : CV73741 (GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3) Homo sapiens

Symbol: CV73741
Name: GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3
Condition: Short stature [RCV000052946]|See cases [RCV000052946]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTR1B   ADRA2B   AFF3   ANKRD23   ANKRD36   ANKRD36B   ANKRD36C   ANKRD39   ARID5A   ASTL   C2orf15   C2orf92   CHST10   CIAO1   CNGA3   CNNM3   CNNM3-DT   CNNM4   CNOT11   COA5   COX5B   CREG2   DUSP2   EIF5B   FAHD2A   FAHD2B   FAM178B   FER1L5   GPAT2   IL18R1   IL18RAP   IL1R1   IL1R2   IL1RL1   IL1RL2   INPP4A   ITPRIPL1   KANSL3   KCNIP3   KIAA1211L   LINC00342   LINC01104   LINC01127   LINC01796   LINC01849   LINC01935   LINC02611   LIPT1   LMAN2L   LONRF2   LYG1   LYG2   MAL   MAP4K4   MFSD9   MGAT4A   MIR3127   MIR4772   MIR5696   MITD1   MRPL30   MRPS5   NCAPH   NEURL3   NMS   NPAS2   NPAS2-AS1   PDCL3   PROM2   REV1   RFX8   RNF149   RPL31   SEMA4C   SLC9A2   SLC9A4   SNORA112   SNORD89   SNRNP200   STARD7   STARD7-AS1   TBC1D8   TBC1D8-AS1   TEKT4   TMEM127   TMEM131   TMEM182   TRIM43   TRIM43B   TSGA10   TXNDC9   UNC50   VWA3B   ZAP70   ZNF2   ZNF514  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_94817406)_(103252396_?)dup
NC_000002.11:g.(?_95618109)_(103868854_?)dup
NC_000002.10:g.(?_94846878)_(103235286_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38294,817,406 - 103,252,396CLINVAR
GRCh37295,618,109 - 103,868,854CLINVAR
Build 36294,846,878 - 103,235,286CLINVAR
Cytogenetic Map22q11.1-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619915
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.