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Variant : CV74959 (GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1) Homo sapiens

Symbol: CV74959
Name: GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1
Condition: Preauricular pit [RCV000054242]|See cases [RCV000054242]
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   BHLHE22   C8orf34   C8orf34-AS1   C8orf44   C8orf44-SGK3   COPS5   CPA6   CRH   CSPP1   CYP7B1   DNAJC5B   EYA1   GGH   KCNB2   LACTB2   LACTB2-AS1   LINC00251   LINC00967   LINC01289   LINC01299   LINC01414   LINC01592   LINC01603   MCMDC2   MIR124-2   MIR124-2HG   MSC   MSC-AS1   MTFR1   MYBL1   NCOA2   NKAIN3   PDE7A   PPP1R42   PRDM14   PREX2   RRS1   RRS1-AS1   SBSPON   SGK3   SLCO5A1   SNHG6   SNORD87   SULF1   TCF24   TERF1   TRA-AGC8-2   TRAM1   TRIM55   TRPA1   TRY-GTA5-1   TRY-GTA5-2   TTPA   VCPIP1   VXN   XKR9   YTHDF3   YTHDF3-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_62230636)_(73227786_?)del
NC_000008.10:g.(?_63143195)_(74140021_?)del
NC_000008.9:g.(?_63305749)_(74302575_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38862,230,636 - 73,227,786CLINVAR
GRCh37863,143,195 - 74,140,021CLINVAR
Build 36863,305,749 - 74,302,575CLINVAR
Cytogenetic Map88q12.3-21.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621152
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.