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Variant : CV158772 (GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1) Homo sapiens

Symbol: CV158772
Name: GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1
Condition: See cases [RCV000138081]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADRA1A   BNIP3L   CCDC25   CDCA2   CHRNA2   CLU   DCTN6   DOCK5   DPYSL2   DUSP4   EBF2   ELP3   EPHX2   ESCO2   EXTL3   EXTL3-AS1   FBXO16   FZD3   GNRH1   GSR   GTF2E2   HMBOX1   INTS9   KCTD9   KIF13B   LEPROTL1   LINC00589   LINC02099   LINC02209   MBOAT4   MIR3148   MIR3622A   MIR3622B   MIR4287   MIR4288   MIR548H4   MIR6842   MIR6843   MIR6876   NRG1   NUGGC   PBK   PNMA2   PNOC   PPP2CB   PPP2R2A   PTK2B   PURG   RBPMS   RBPMS-AS1   SARAF   SCARA3   SCARA5   SMIM18   STMN4   TEX15   TRIM35   UBXN8   WRN   ZNF395  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_25171103)_(31750600_?)del
NC_000008.9:g.(?_25084535)_(31727658_?)del
NC_000008.10:g.(?_25028618)_(31608116_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38825,171,103 - 31,750,600CLINVAR
GRCh37825,028,618 - 31,608,116CLINVAR
Build 36825,084,535 - 31,727,658CLINVAR
Cytogenetic Map88p21.2-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485630
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.