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Variant : CV159782 (GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3) Homo sapiens

Symbol: CV159782
Name: GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3
Condition: See cases [RCV000138946]
Clinical Significance: pathogenic
Last Evaluated: 08/02/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL8B   ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   ATP2B2-IT2   BHLHE40   BHLHE40-AS1   BRK1   BRPF1   CAMK1   CAND2   CAV3   CHL1   CHL1-AS1   CHL1-AS2   CIDEC   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CPNE9   CRBN   CRELD1   EDEM1   EGOT   EMC3   EMC3-AS1   FANCD2   FANCD2OS   FBLN2   GHRL   GHRLOS   GRM7   GRM7-AS1   GRM7-AS2   GRM7-AS3   HDAC11   HDAC11-AS1   HRH1   IL17RC   IL17RE   IL5RA   IQSEC1   IRAK2   ITPR1   ITPR1-DT   JAGN1   LHFPL4   LINC00312   LINC00606   LINC00852   LINC01266   LINC02022   LMCD1   LMCD1-AS1   LRRN1   MIR12127   MIR378B   MIR4790   MIR885   MKRN2   MKRN2OS   MTMR14   NUP210   OGG1   OXTR   PPARG   PRRT3   PRRT3-AS1   RAD18   RAF1   RPL32   RPUSD3   SEC13   SETD5   SETMAR   SLC6A1   SLC6A1-AS1   SLC6A11   SNORA7A   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   SYN2   TADA3   TAMM41   TATDN2   THUMPD3   THUMPD3-AS1   TIMP4   TMEM40   TRNT1   TSEN2   TTLL3   VGLL4   VHL  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_32241)_(13613818_?)dup
NC_000003.11:g.(?_73914)_(13655318_?)dup
NC_000003.10:g.(?_48914)_(13630319_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38332,241 - 13,613,818CLINVAR
GRCh37373,914 - 13,655,318CLINVAR
Build 36348,914 - 13,630,319CLINVAR
Cytogenetic Map33p26.3-25.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486478
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.