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Variant : CV73087 (GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1) Homo sapiens

Symbol: CV73087
Name: GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1
Condition: Hydronephrosis [RCV000052249]|See cases [RCV000052249]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTB   ADAP1   AMZ1   AP5Z1   BRAT1   C7orf50   CARD11   CARD11-AS1   CHST12   COX19   CYP2W1   DNAAF5   EIF3B   ELFN1   ELFN1-AS1   FAM20C   FBXL18   FOXK1   FSCN1   GET4   GNA12   GPER1   GPR146   GRIFIN   INTS1   IQCE   LFNG   LNCRI   MAD1L1   MAFK   MICALL2   MIR339   MIR4648   MIR4655   MIR4656   MIR589   MIR6836   MIR6874   MMD2   MRM2   NUDT1   OCM   PAPOLB   PDGFA   PRKAR1B   PRKAR1B-AS1   PRKAR1B-AS2   PSMG3   PSMG3-AS1   RADIL   RBAK   RBAK-RBAKDN   RBAKDN   RNF216   RNF216-IT1   SDK1   SLC29A4   SNORA114   SNORD165   SNX8   SUN1   TMEM184A   TNRC18   TTYH3   UNCX   WIPI2   ZFAND2A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_45130)_(5880375_?)del
NC_000007.13:g.(?_45130)_(5920006_?)del
NC_000007.12:g.(?_140213)_(5886532_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38745,130 - 5,880,375CLINVAR
GRCh37745,130 - 5,920,006CLINVAR
Build 367140,213 - 5,886,532CLINVAR
Cytogenetic Map77p22.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619251
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.