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Variant : CV72594 (GRCh38/hg38 3q29(chr3:193917490-198110319)x3) Homo sapiens

Symbol: CV72594
Name: GRCh38/hg38 3q29(chr3:193917490-198110319)x3
Condition: Abnormality of the foot [RCV000051741]|See cases [RCV000051741]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAP2   APOD   ATP13A3   BDH1   CEP19   CPN2   DLG1   DLG1-AS1   FAM43A   FBXO45   FYTTD1   GP5   HES1   IQCG   LINC00884   LINC00885   LINC00887   LINC01063   LINC01968   LINC01972   LINC01983   LINC02012   LINC02026   LINC02028   LINC02036   LINC02037   LINC02048   LMLN   LMLN-AS1   LRCH3   LRRC15   LSG1   MELTF   MELTF-AS1   MIR3137   MIR4797   MIR570   MIR570HG   MIR6829   MIR922   MUC20   MUC4   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   PPP1R2   RNF168   RPL35A   RUBCN   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TMEM44   TMEM44-AS1   TNK2   TNK2-AS1   UBXN7   UBXN7-AS1   WDR53   XXYLT1   XXYLT1-AS1   XXYLT1-AS2   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_193917490)_(198110319_?)dup
NC_000003.11:g.(?_193635279)_(197837190_?)dup
NC_000003.10:g.(?_195117973)_(199321587_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,917,490 - 198,110,319CLINVAR
GRCh373193,635,279 - 197,837,190CLINVAR
Build 363195,117,973 - 199,321,587CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618754
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.