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Variant : CV156437 (GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1) Homo sapiens

Symbol: CV156437
Name: GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1
Condition: See cases [RCV000135937]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 02/25/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRE2   ADGRE3   ADGRE5   ADGRL1   ADGRL1-AS1   ASF1B   BEST2   BRME1   C19orf53   C19orf67   CACNA1A   CALR   CC2D1A   CCDC130   CLEC17A   DAND5   DCAF15   DDX39A   DHPS   DNAJB1   DNASE2   FARSA   FARSA-AS1   FBXW9   GADD45GIP1   GCDH   GET3   GIPC1   GNG14   HOOK2   IER2   IL27RA   JUNB   KLF1   LINC01841   LINC01842   LOC108663985   LOC110121458   LOC111365163   LOC112543448   LOC112543452   LOC112543454   LOC112543455   LOC112543458   LOC112543459   LOC112543461   LOC116276504   LOC116276505   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   MIR1199   MIR181C   MIR181D   MIR23A   MIR23AHG   MIR24-2   MIR27A   MIR5684   MIR5695   MIR639   MIR6515   MIR6794   MISP3   MRI1   NACC1   NANOS3   NDUFB7   NFIX   PALM3   PKN1   PODNL1   PRDX2   PRKACA   PTGER1   RAD23A   RFX1   RLN3   RNASEH2A   RTBDN   SAMD1   SNORA104   SNORD135   SNORD41   STX10   SYCE2   TECR   TNPO2   TRIR   TRMT1   WDR83   WDR83OS   ZNF333   ZNF490   ZNF791   ZSWIM4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_12580427)_(14742673_?)del
Human AssemblyChrPosition (strand)Source
GRCh381912,580,427 - 14,742,673CLINVAR
GRCh371912,691,241 - 14,853,485CLINVAR
Build 361912,552,241 - 14,714,485CLINVAR
Cytogenetic Map1919p13.2-13.12CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9483503
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.