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Variant : CV157314 (GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3) Homo sapiens

Symbol: CV157314
Name: GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3
Condition: See cases [RCV000136731]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTB   ADAP1   AIMP2   AMZ1   ANKRD61   AP5Z1   BRAT1   C7orf26   C7orf50   CARD11   CARD11-AS1   CCZ1   CHST12   COX19   CYP2W1   CYTH3   DAGLB   DNAAF5   EIF2AK1   EIF3B   ELFN1   ELFN1-AS1   FAM20C   FAM220A   FBXL18   FOXK1   FSCN1   GET4   GNA12   GPER1   GPR146   GRID2IP   GRIFIN   INTS1   IQCE   KDELR2   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   RAC1   RADIL   RBAK   RBAK-RBAKDN   RBAKDN   RNF216   RNF216-IT1   RSPH10B   SDK1   SLC29A4   SNORA114   SNORA80D   SNORD165   SNX8   SUN1   TMEM184A   TNRC18   TTYH3   UNCX   USP42   WIPI2   ZDHHC4   ZFAND2A   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_54185)_(6638027_?)dup
NC_000007.13:g.(?_54185)_(6677658_?)dup
NC_000007.12:g.(?_149268)_(6644183_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38754,185 - 6,638,027CLINVAR
GRCh37754,185 - 6,677,658CLINVAR
Build 367149,268 - 6,644,183CLINVAR
Cytogenetic Map77p22.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484292
Created: 2014-09-09
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.