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Variant : CV165382 (GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1) Homo sapiens

Symbol: CV165382
Name: GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1
Condition: See cases [RCV000143695]
Clinical Significance: pathogenic
Last Evaluated: 12/03/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADCY5   ADPRH   ALDH1L1   ALDH1L1-AS1   ALDH1L1-AS2   ALG1L   ARGFX   ARHGAP31   ARHGAP31-AS1   B4GALT4   B4GALT4-AS1   C3orf22   CASR   CCDC14   CCDC37-DT   CCDC58   CD80   CD86   CFAP100   CHST13   COX17   CSTA   DTX3L   EAF2   FAM162A   FBXO40   FSTL1   GOLGB1   GPR156   GSK3B   GTF2E1   HACD2   HCLS1   HEG1   HGD   HSPBAP1   IGSF11   IGSF11-AS1   ILDR1   IQCB1   ITGB5   KALRN   KLF15   KPNA1   LINC02035   LINC02049   LINC02614   LRRC58   MAATS1   MIR198   MIR5002   MIR5092   MIR544B   MIR548I1   MIR5682   MIR6083   MIR6529   MIR7110   MUC13   MYLK   MYLK-AS1   MYLK-AS2   NDUFB4   NR1I2   OSBPL11   PARP14   PARP15   PARP9   PDIA5   PLA1A   POGLUT1   POLQ   POPDC2   RABL3   ROPN1   ROPN1B   SEC22A   SEMA5B   SLC12A8   SLC15A2   SLC41A3   SLC49A4   SNX4   STXBP5L   TEX55   TIMMDC1   TMEM39A   UMPS   UPK1B   UROC1   WDR5B   ZNF148   ZXDC  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_118673898)_(126540730_?)del
Human AssemblyChrPosition (strand)Source
GRCh383118,673,898 - 126,540,730CLINVAR
GRCh373118,392,745 - 126,259,573CLINVAR
Build 363119,875,435 - 127,742,263CLINVAR
Cytogenetic Map33q13.32-21.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9491293
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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