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Variant : CV155966 (GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4) Homo sapiens

Symbol: CV155966
Name: GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4
Condition: See cases [RCV000135528]
Clinical Significance: pathogenic
Last Evaluated: 05/06/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: A4GALT   AL079301.1   ARFGAP3   ARHGAP8   ATP5MGL   ATXN10   BIK   CDPF1   CELSR1   CERK   CYB5R3   EFCAB6   EFCAB6-AS1   FAM118A   FBLN1   GRAMD4   GTSE1   GTSE1-DT   KIAA0930   LINC00207   LINC00229   LINC00899   LINC01315   LINC01589   LINC01639   LINC01656   MCAT   MIR1249   MIR3619   MIR4762   MIR4763   MIRLET7A3   MIRLET7B   MIRLET7BHG   MPPED1   NFAM1   NUP50   NUP50-DT   PACSIN2   PARVB   PARVG   PHF21B   PKDREJ   PNPLA3   PNPLA5   POLDIP3   PPARA   PRR34   PRR34-AS1   PRR5   PRR5-ARHGAP8   RIBC2   RNU12   RRP7A   RTL6   SAMM50   SCUBE1   SCUBE1-AS1   SCUBE1-AS2   SERHL2   SHISAL1   SMC1B   SULT4A1   TBC1D22A   TBC1D22A-AS1   TCF20   TRMU   TRU-TCA2-1   TSPO   TTC38   TTLL1   TTLL1-AS1   TTLL12   UPK3A   WNT7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_42197923)_(47305564_?)dup
NC_000022.10:g.(?_42593929)_(47701314_?)dup
NC_000022.9:g.(?_40923873)_(46079978_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382242,197,923 - 47,305,564CLINVAR
GRCh372242,593,929 - 47,701,314CLINVAR
Build 362240,923,873 - 46,079,978CLINVAR
Cytogenetic Map2222q13.2-13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483100
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.