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Variant : CV163473 (GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1) Homo sapiens

Symbol: CV163473
Name: GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1
Condition: See cases [RCV000142009]
Clinical Significance: pathogenic
Last Evaluated: 08/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADCY5   ADPRH   ARGFX   ARHGAP31   ARHGAP31-AS1   B4GALT4   B4GALT4-AS1   CASR   CCDC14   CCDC58   CD80   CD86   COX17   CSTA   DRD3   DTX3L   EAF2   FAM162A   FBXO40   FSTL1   GAP43   GOLGB1   GPR156   GSK3B   GTF2E1   HACD2   HCLS1   HGD   HSPBAP1   IGSF11   IGSF11-AS1   ILDR1   IQCB1   KALRN   KPNA1   LINC00901   LINC00903   LINC02024   LINC02035   LINC02049   LRRC58   LSAMP   LSAMP-AS1   MAATS1   MIR198   MIR4447   MIR4796   MIR5002   MIR568   MIR5682   MIR6083   MIR6529   MIR7110   MYLK   MYLK-AS1   MYLK-AS2   NDUFB4   NR1I2   PARP14   PARP15   PARP9   PDIA5   PLA1A   POGLUT1   POLQ   POPDC2   RABL3   ROPN1   SEC22A   SEMA5B   SLC15A2   SLC49A4   SNORD155   STXBP5L   TEX55   TIGIT   TIMMDC1   TMEM39A   TUSC7   UPK1B   WDR5B   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZNF80  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_114122562)_(124532374_?)del
NC_000003.11:g.(?_113841409)_(124251221_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383114,122,562 - 124,532,374CLINVAR
GRCh373113,841,409 - 124,251,221CLINVAR
Build 363115,324,099 - 125,733,911CLINVAR
Cytogenetic Map33q13.31-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489529
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.