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Variant : CV73708 (GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3) Homo sapiens

Symbol: CV73708
Name: GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3
Condition: See cases [RCV000052911]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CACNA1A   CALR   DAND5   DNASE2   FARSA   FARSA-AS1   GADD45GIP1   GCDH   IER2   KLF1   LOC108663985   LOC110121458   LOC112543452   LOC112543454   LOC112543455   LOC112543458   LOC117125588   LOC117125589   LOC117125590   LOC117125591   LOC117125592   LOC117125593   LOC117125594   LOC117125595   LOC117125596   LOC117125597   LOC117125598   LYL1   MAST1   MIR5695   MIR6515   MIR6794   NACC1   NFIX   RAD23A   STX10   SYCE2   TRMT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_12850595)_(13290954_?)dup
NC_000019.9:g.(?_12961409)_(13401768_?)dup
NC_000019.8:g.(?_12822409)_(13262768_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,850,595 - 13,290,954CLINVAR
GRCh371912,961,409 - 13,401,768CLINVAR
Build 361912,822,409 - 13,262,768CLINVAR
Cytogenetic Map1919p13.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619881
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.