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Variant : CV157697 (GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3) Homo sapiens

Symbol: CV157697
Name: GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3
Condition: See cases [RCV000137050]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADHFE1   ARFGEF1   ATP6V0D2   C8orf34   C8orf34-AS1   C8orf44   C8orf44-SGK3   C8orf87   C8orf88   C8orf89   CA1   CA13   CA2   CA3   CA3-AS1   CALB1   CASC9   CHMP4C   CNBD1   CNGB3   COPS5   CPA6   CPNE3   CRH   CRISPLD1   CSPP1   DCAF4L2   DECR1   E2F5   ELOC   EYA1   FABP12   FABP4   FABP5   FABP9   GDAP1   HEY1   HNF4G   IL7   IMPA1   JPH1   KCNB2   LACTB2   LACTB2-AS1   LINC00534   LINC00535   LINC00967   LINC01030   LINC01111   LINC01419   LINC01592   LINC01603   LINC01607   LINC01617   LINC02605   LINC02839   LRRC69   LRRCC1   LY96   MCMDC2   MIR12123   MIR2052   MIR2052HG   MIR3149   MIR4661   MIR5681A   MIR5681B   MIR5708   MIR8084   MMP16   MRPS28   MSC   MSC-AS1   MYBL1   NBN   NCOA2   NECAB1   OSGIN2   OTUD6B   OTUD6B-AS1   PAG1   PEX2   PI15   PIP4P2   PKIA   PKIA-AS1   PMP2   PPP1R42   PRDM14   PREX2   PSKH2   RALYL   RBIS   RDH10   RDH10-AS1   RIPK2   RMDN1   RPL7   RRS1   RRS1-AS1   RUNX1T1   SBSPON   SGK3   SLC10A5   SLC26A7   SLC7A13   SLCO5A1   SNHG6   SNORD87   SNX16   STAU2   STAU2-AS1   STMN2   SULF1   TCF24   TERF1   TMEM64   TMEM70   TPD52   TRAM1   TRIM55   TRIQK   TRPA1   UBE2W   VCPIP1   VXN   WWP1   XKR9   ZBTB10   ZC2HC1A   ZFAND1   ZFHX4   ZFHX4-AS1   ZNF704  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_66171669)_(93505509_?)dup
NC_000008.10:g.(?_67083904)_(94517737_?)dup
NC_000008.9:g.(?_67246458)_(94586913_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38866,171,669 - 93,505,509CLINVAR
GRCh37867,083,904 - 94,517,737CLINVAR
Build 36867,246,458 - 94,586,913CLINVAR
Cytogenetic Map88q13.1-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484610
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.