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Variant : CV165453 (GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3) Homo sapiens

Symbol: CV165453
Name: GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3
Condition: See cases [RCV000143766]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   ATP2B2-IT2   BRK1   BRPF1   CAMK1   CAND2   CAV3   CHCHD4   CIDEC   CPNE9   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   FBLN2   GHRL   GHRLOS   GRM7   GRM7-AS1   HDAC11   HDAC11-AS1   HRH1   IL17RC   IL17RE   IQSEC1   IRAK2   JAGN1   LHFPL4   LINC00312   LINC00606   LINC00620   LINC00852   LINC01267   LINC02022   LMCD1   LMCD1-AS1   LSM3   MIR12127   MIR378B   MIR885   MKRN2   MKRN2OS   MTMR14   NUP210   OGG1   OXTR   PPARG   PRRT3   PRRT3-AS1   RAD18   RAF1   RPL32   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A1-AS1   SLC6A11   SNORA7A   SNORA93   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SYN2   TADA3   TAMM41   TATDN2   THUMPD3   THUMPD3-AS1   TIMP4   TMEM40   TMEM43   TSEN2   TTLL3   VGLL4   VHL   WNT7A   XPC  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_7356110)_(14360442_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3837,356,110 - 14,360,442CLINVAR
GRCh3737,397,797 - 14,401,942CLINVAR
Build 3637,372,797 - 14,376,946CLINVAR
Cytogenetic Map33p26.1-25.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9491364
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.