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Variant : CV74383 (GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3) Homo sapiens

Symbol: CV74383
Name: GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|See cases [RCV000053654]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADHFE1   ARFGEF1   ARMC1   ASPH   BHLHE22   C8orf34   C8orf34-AS1   C8orf44   C8orf44-SGK3   C8orf89   CASC9   CHMP4C   COPS5   CPA6   CRH   CRISPLD1   CSPP1   CYP7B1   DNAJC5B   ELOC   EYA1   FABP12   FABP4   FABP5   FABP9   GDAP1   GGH   HEY1   HNF4G   IL7   IMPA1   JPH1   KCNB2   LACTB2   LACTB2-AS1   LINC00251   LINC00967   LINC01111   LINC01289   LINC01299   LINC01414   LINC01592   LINC01603   LINC01607   LINC01617   LINC02155   LINC02605   LINC02839   LINC02842   LY96   MCMDC2   MIR12123   MIR124-2   MIR124-2HG   MIR2052   MIR2052HG   MIR3149   MIR4470   MIR5681A   MIR5681B   MIR5708   MRPS28   MSC   MSC-AS1   MTFR1   MYBL1   NCOA2   NKAIN3   NKAIN3-IT1   PAG1   PDE7A   PEX2   PI15   PKIA   PKIA-AS1   PMP2   PPP1R42   PRDM14   PREX2   RDH10   RDH10-AS1   RPL7   RRS1   RRS1-AS1   SBSPON   SGK3   SLC10A5   SLCO5A1   SNHG6   SNORD87   SNX16   STAU2   STAU2-AS1   STMN2   SULF1   TCF24   TERF1   TMEM70   TPD52   TRA-AGC8-2   TRAM1   TRIM55   TRPA1   TRY-GTA5-1   TRY-GTA5-2   TTPA   UBE2W   VCPIP1   VXN   XKR9   YTHDF3   YTHDF3-AS1   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.(?_61691800)_(82537696_?)dup
NC_000008.10:g.(?_62604359)_(83449931_?)dup
NC_000008.9:g.(?_62766913)_(83612486_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38861,691,800 - 82,537,696CLINVAR
GRCh37862,604,359 - 83,449,931CLINVAR
Build 36862,766,913 - 83,612,486CLINVAR
Cytogenetic Map88q12.3-21.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620573
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.