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Variant : CV164141 (GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1) Homo sapiens

Symbol: CV164141
Name: GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1
Condition: See cases [RCV000142454]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AACS   ABCB9   ACADS   ANAPC5   ARL6IP4   ATP6V0A2   B3GNT4   BCL7A   BRI3BP   C12orf43   C12orf65   CAMKK2   CCDC62   CCDC92   CDK2AP1   CLIP1   CLIP1-AS1   DDX55   DENR   DHX37   DIABLO   DNAH10   EIF2B1   GTF2H3   HCAR1   HCAR2   HCAR3   HIP1R   HNF1A   HNF1A-AS1   HPD   IL31   KDM2B   KDM2B-DT   KMT5A   KNTC1   LINC00939   LINC00943   LINC00944   LINC01089   LINC02347   LINC02350   LINC02359   LINC02372   LINC02375   LINC02376   LINC02405   LINC02824   LINC02825   LINC02826   LRRC43   MIR3908   MIR4304   MIR4700   MIR5188   MIR6880   MIR7107   MIR8072   MIR9902-1   MIR9902-2   MLXIP   MORN3   MPHOSPH9   NCOR2   OASL   OGFOD2   ORAI1   P2RX4   P2RX7   PITPNM2   PITPNM2-AS1   PSMD9   RFLNA   RHOF   RILPL1   RILPL2   RNF34   RSRC2   SBNO1   SBNO1-AS1   SCARB1   SETD1B   SNORA9B   SNRNP35   SPPL3   TCTN2   THRIL   TMED2   TMED2-DT   TMEM120B   TMEM132B   TRA-TGC3-2   TRA-TGC4-1   TRD-GTC2-10   TRD-GTC2-9   TRF-GAA1-4   UBC   UNC119B   VPS33A   VPS37B   WDR66   ZCCHC8   ZNF664  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_120718786)_(127500215_?)del
NC_000012.11:g.(?_121156589)_(127984760_?)del
NC_000012.10:g.(?_119640972)_(126550713_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812120,718,786 - 127,500,215CLINVAR
GRCh3712121,156,589 - 127,984,760CLINVAR
Build 3612119,640,972 - 126,550,713CLINVAR
Cytogenetic Map1212q24.31-24.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490052
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.