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Variant : CV164892 (GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1) Homo sapiens

Symbol: CV164892
Name: GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1
Condition: See cases [RCV000143205]
Clinical Significance: pathogenic
Last Evaluated: 01/28/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTC1   APBA2   AQR   ARHGAP11A   ARHGAP11B   ATP10A   AVEN   C15orf41   CHRFAM7A   CHRM5   CHRNA7   DPH6   DPH6-DT   EMC4   EMC7   FAM189A1   FAN1   FMN1   GABRA5   GABRB3   GABRG3   GABRG3-AS1   GJD2   GOLGA6L7   GOLGA8A   GOLGA8B   GOLGA8F   GOLGA8G   GOLGA8H   GOLGA8J   GOLGA8K   GOLGA8M   GOLGA8N   GOLGA8O   GOLGA8Q   GOLGA8R   GOLGA8T   GREM1   HERC2   IPW   KATNBL1   KLF13   LINC00929   LINC02249   LINC02250   LINC02252   LINC02256   LINC02346   LINC02352   LINC02853   LPCAT4   MEIS2   MIR1233-1   MIR1233-2   MIR211   MIR3942   MIR4509-2   MIR4509-3   MIR4510   MIR4715   MIR8063   MTMR10   NANOGP8   NOP10   NSMCE3   NUTM1   OCA2   OTUD7A   PGBD4   PWAR1   PWAR4   PWAR6   RYR3   SCG5   SLC12A6   SNHG14   SNORD109A   SNORD109B   SNORD115-1   SNORD115-10   SNORD115-11   SNORD115-12   SNORD115-13   SNORD115-14   SNORD115-15   SNORD115-16   SNORD115-17   SNORD115-18   SNORD115-19   SNORD115-2   SNORD115-20   SNORD115-21   SNORD115-22   SNORD115-23   SNORD115-24   SNORD115-25   SNORD115-26   SNORD115-27   SNORD115-28   SNORD115-29   SNORD115-3   SNORD115-30   SNORD115-31   SNORD115-32   SNORD115-33   SNORD115-34   SNORD115-35   SNORD115-36   SNORD115-37   SNORD115-38   SNORD115-39   SNORD115-4   SNORD115-40   SNORD115-41   SNORD115-42   SNORD115-43   SNORD115-44   SNORD115-45   SNORD115-46   SNORD115-47   SNORD115-48   SNORD115-5   SNORD115-6   SNORD115-7   SNORD115-8   SNORD115-9   SNORD116-1   SNORD116-10   SNORD116-11   SNORD116-12   SNORD116-13   SNORD116-14   SNORD116-15   SNORD116-16   SNORD116-17   SNORD116-18   SNORD116-19   SNORD116-2   SNORD116-20   SNORD116-21   SNORD116-22   SNORD116-23   SNORD116-24   SNORD116-25   SNORD116-26   SNORD116-27   SNORD116-28   SNORD116-29   SNORD116-3   SNORD116-30   SNORD116-4   SNORD116-5   SNORD116-6   SNORD116-7   SNORD116-8   SNORD116-9   SNORD116@   TJP1   TRE-TTC2-2   TRPM1   UBE3A   ZNF770  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_25033869)_(37204304_?)del
NC_000015.9:g.(?_25279016)_(37496505_?)del
NC_000015.8:g.(?_22830109)_(35283797_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381525,033,869 - 37,204,304CLINVAR
GRCh371525,279,016 - 37,496,505CLINVAR
Build 361522,830,109 - 35,283,797CLINVAR
Cytogenetic Map1515q11.2-14CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490803
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.