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Variant : CV74382 (GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3) Homo sapiens

Symbol: CV74382
Name: GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3
Condition: Cleft palate, isolated [RCV000053653]|See cases [RCV000053653]
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   CA8   CASC9   CHD7   CLVS1   COPS5   CPA6   CRH   CRISPLD1   CSPP1   CYP7A1   CYP7B1   DNAJC5B   ELOC   EYA1   FAM110B   GDAP1   GGH   HNF4G   IL7   JPH1   KCNB2   LACTB2   LACTB2-AS1   LINC00251   LINC00967   LINC01111   LINC01289   LINC01299   LINC01301   LINC01414   LINC01592   LINC01602   LINC01603   LINC01617   LINC02155   LINC02605   LINC02842   LY96   MCMDC2   MIR124-2   MIR124-2HG   MIR2052   MIR2052HG   MIR3149   MIR4470   MIR5681A   MIR5681B   MSC   MSC-AS1   MTFR1   MYBL1   NCOA2   NKAIN3   NKAIN3-IT1   NSMAF   PDE7A   PEX2   PI15   PKIA   PKIA-AS1   PPP1R42   PRDM14   PREX2   RAB2A   RDH10   RDH10-AS1   RPL7   RRS1   RRS1-AS1   SBSPON   SDCBP   SGK3   SLCO5A1   SNHG6   SNORD87   STAU2   STAU2-AS1   SULF1   TCF24   TERF1   TMEM70   TOX   TRA-AGC8-2   TRAM1   TRIM55   TRPA1   TRY-GTA5-1   TRY-GTA5-2   TTPA   UBE2W   UBXN2B   VCPIP1   VXN   XKR9   YTHDF3   YTHDF3-AS1   ZC2HC1A   ZFHX4   ZFHX4-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_57361243)_(79170078_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38857,361,243 - 79,170,078CLINVAR
GRCh37858,273,802 - 80,082,313CLINVAR
Build 36858,436,356 - 80,244,868CLINVAR
Cytogenetic Map88q12.1-21.13CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8620572
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.