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Variant : CV74270 (GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3) Homo sapiens

Symbol: CV74270
Name: GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3
Condition: Scoliosis [RCV000053527]|See cases [RCV000053527]
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   AIMP2   AMZ1   ANKRD61   AP5Z1   BRAT1   C7orf50   CARD11   CARD11-AS1   CCZ1   CHST12   COX19   CYP2W1   CYTH3   DNAAF5   EIF2AK1   EIF3B   ELFN1   ELFN1-AS1   FAM20C   FBXL18   FOXK1   FOXL3   FOXL3-OT1   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   PMS2   PRKAR1B   PRKAR1B-AS1   PRKAR1B-AS2   PSMG3   PSMG3-AS1   RADIL   RBAK   RBAK-RBAKDN   RBAKDN   RNF216   RNF216-IT1   RSPH10B   SDK1   SLC29A4   SNORA114   SNORA80D   SNORD165   SNX8   SUN1   TMEM184A   TNRC18   TTYH3   UNCX   USP42   WIPI2   ZFAND2A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_45130)_(6270185_?)dup
NC_000007.13:g.(?_45130)_(6309816_?)dup
NC_000007.12:g.(?_140213)_(6276341_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38745,130 - 6,270,185CLINVAR
GRCh37745,130 - 6,309,816CLINVAR
Build 367140,213 - 6,276,341CLINVAR
Cytogenetic Map77p22.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620456
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.