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Variant : CV73451 (GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1) Homo sapiens

Symbol: CV73451
Name: GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1
Condition: See cases [RCV000052646]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CSRP3   CSRP3-AS1   E2F8   GTF2H1   HPS5   IGSF22   LDHA   LDHAL6A   LDHC   LOC110121487   LOC110121488   LOC112067715   LOC112067716   MIR3159   MIR4486   MRGPRX1   MRGPRX2   MRGPRX3   MRGPRX4   NAV2   NAV2-AS4   NAV2-AS5   PTPN5   SAA1   SAA2   SAA2-SAA4   SAA4   SAAL1   SERGEF   SPTY2D1   SPTY2D1OS   TMEM86A   TPH1   TSG101   UEVLD   ZDHHC13  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_17905089)_(19674505_?)del
Human AssemblyChrPosition (strand)Source
GRCh381117,905,089 - 19,674,505CLINVAR
GRCh371117,926,636 - 19,696,051CLINVAR
Build 361117,883,212 - 19,652,627CLINVAR
Cytogenetic Map1111p15.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619621
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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