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Variant : CV613900 (GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)) Homo sapiens

Symbol: CV613900
Name: GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)
Condition: Multiple endocrine neoplasia, type 4 [RCV000767604]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: APOLD1   BCL2L14   BORCS5   CDKN1B   CREBL2   DDX47   DUSP16   EMP1   ETV6   FAM234B   GABARAPL1   GPR19   GPRC5A   GPRC5D   GSG1   HEBP1   KLRC1   KLRC2   KLRC3   KLRC4   KLRD1   KLRK1   LRP6   MAGOHB   MANSC1   PRB1   PRB2   PRB3   PRB4   PRH1   PRH2   PRR4   STYK1   TAS2R10   TAS2R13   TAS2R14   TAS2R19   TAS2R20   TAS2R30   TAS2R31   TAS2R42   TAS2R43   TAS2R46   TAS2R50   TAS2R7   TAS2R8   TAS2R9   TMEM52B   YBX3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371210,336,209 - 13,535,349CLINVAR
Cytogenetic Map1212p13.2-13.1CLINVAR
Trait Synonyms: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399569
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-08-04
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.