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Variant : CV164937 (GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1) Homo sapiens

Symbol: CV164937
Name: GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1
Condition: See cases [RCV000143250]
Clinical Significance: pathogenic
Last Evaluated: 12/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AACS   ABCB9   ARL6IP4   ATP6V0A2   B3GNT4   BCL7A   BRI3BP   C12orf65   CCDC62   CCDC92   CDK2AP1   CLIP1   CLIP1-AS1   DDX55   DENR   DHX37   DIABLO   DNAH10   EIF2B1   GTF2H3   HCAR1   HCAR2   HCAR3   HIP1R   IL31   KMT5A   KNTC1   LINC00939   LINC00943   LINC00944   LINC02347   LINC02350   LINC02359   LINC02372   LINC02375   LINC02376   LINC02405   LINC02411   LINC02824   LINC02825   LINC02826   LRRC43   MIR3908   MIR4304   MIR5188   MIR6880   MIR8072   MIR9902-1   MIR9902-2   MLXIP   MPHOSPH9   NCOR2   OGFOD2   PITPNM2   PITPNM2-AS1   PSMD9   RFLNA   RILPL1   RILPL2   RSRC2   SBNO1   SBNO1-AS1   SCARB1   SNORA9B   SNRNP35   TCTN2   THRIL   TMED2   TMED2-DT   TMEM132B   TRA-TGC3-2   TRA-TGC4-1   TRD-GTC2-10   TRD-GTC2-9   TRF-GAA1-4   UBC   VPS33A   VPS37B   WDR66   ZCCHC8   ZNF664  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_121917758)_(127802717_?)del
NC_000012.11:g.(?_122355664)_(128287262_?)del
NC_000012.10:g.(?_120840047)_(126853215_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812121,917,758 - 127,802,717CLINVAR
GRCh3712122,355,664 - 128,287,262CLINVAR
Build 3612120,840,047 - 126,853,215CLINVAR
Cytogenetic Map1212q24.31-24.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490848
Created: 2014-09-09
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.