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Variant : CV159691 (GRCh38/hg38 3q29(chr3:195955711-197597912)x1) Homo sapiens

Symbol: CV159691
Name: GRCh38/hg38 3q29(chr3:195955711-197597912)x1
Condition: See cases [RCV000138878]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BDH1   CEP19   DLG1   DLG1-AS1   FBXO45   LINC00885   LINC01063   LINC02012   MELTF   MELTF-AS1   MIR4797   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   UBXN7   UBXN7-AS1   WDR53   ZDHHC19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_195955711)_(197597912_?)del
NC_000003.11:g.(?_195682582)_(197324783_?)del
NC_000003.10:g.(?_197166979)_(198809180_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,955,711 - 197,597,912CLINVAR
GRCh373195,682,582 - 197,324,783CLINVAR
Build 363197,166,979 - 198,809,180CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486411
Created: 2014-09-09
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.