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Variant : CV74668 (GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1) Homo sapiens

Symbol: CV74668
Name: GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1
Condition: See cases [RCV000053945]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACP5   BEST2   CACNA1A   CALR   CNN1   DAND5   DHPS   DNASE2   ECSIT   ELOF1   FARSA   FARSA-AS1   FBXW9   GADD45GIP1   GCDH   GET3   GNG14   HOOK2   IER2   JUNB   KLF1   LOC100289333   LOC108663985   LOC110121458   LOC112543445   LOC112543446   LOC112543448   LOC112543452   LOC112543454   LOC112543455   LOC112543458   LOC116276503   LOC117038783   LOC117038784   LOC117038785   LOC117038786   LOC117038787   LOC117038788   LOC117038789   LOC117038790   LOC117038791   LOC117038792   LOC117038793   LOC117038794   LOC117038795   LOC117125585   LOC117125586   LOC117125587   LOC117125588   LOC117125589   LOC117125590   LOC117125591   LOC117125592   LOC117125593   LOC117125594   LOC117125595   LOC117125596   LOC117125597   LOC117125598   LYL1   MAN2B1   MAST1   MIR5684   MIR5695   MIR6515   MIR6794   NACC1   NFIX   PRDX2   RAD23A   RNASEH2A   RTBDN   SNORD135   SNORD41   STX10   SYCE2   TNPO2   TRIR   TRMT1   WDR83   WDR83OS   ZNF136   ZNF20   ZNF433   ZNF433-AS1   ZNF439   ZNF44   ZNF440   ZNF441   ZNF442   ZNF443   ZNF490   ZNF491   ZNF563   ZNF564   ZNF625   ZNF625-ZNF20   ZNF627   ZNF69   ZNF700   ZNF709   ZNF763   ZNF788P   ZNF791   ZNF799   ZNF823   ZNF844   ZNF878  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_11517825)_(13225287_?)del
NC_000019.9:g.(?_11628640)_(13336101_?)del
NC_000019.8:g.(?_11489640)_(13197101_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,517,825 - 13,225,287CLINVAR
GRCh371911,628,640 - 13,336,101CLINVAR
Build 361911,489,640 - 13,197,101CLINVAR
Cytogenetic Map1919p13.2-13.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620860
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.