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Variant : CV553993 (GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1) Homo sapiens

Symbol: CV553993
Name: GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1
Condition: not provided [RCV000682298]
Clinical Significance: pathogenic
Last Evaluated: 12/29/2017
Review Status: no assertion criteria provided
Related Genes: ADPRH   ARGFX   ARHGAP31   B4GALT4   CASR   CCDC58   CD80   CD86   CFAP91   COX17   CSTA   EAF2   FAM162A   FBXO40   FSTL1   GOLGB1   GPR156   GSK3B   GTF2E1   HCLS1   HGD   IGSF11   IGSF11-AS1   ILDR1   IQCB1   LRRC58   LSAMP   NDUFB4   NR1I2   PLA1A   POGLUT1   POLQ   POPDC2   RABL3   SLC15A2   STXBP5L   TEX55   TIMMDC1   TMEM39A   UPK1B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373115,518,341 - 122,129,283CLINVAR
Cytogenetic Map33q13.31-21.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795075
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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