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Variant : CV486820 (NC_000016.9:g.2127606_2334390dup) Homo sapiens

Symbol: CV486820
Name: NC_000016.9:g.2127606_2334390dup
Condition: Endometrial carcinoma [RCV000588521]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2014
Review Status: no assertion criteria provided
Related Genes: ABCA3   BRICD5   CASKIN1   DNASE1L2   E4F1   ECI1   MIR1225   MIR3180-5   MIR3677   MIR4516   MIR4717   MIR6511B1   MIR940   MLST8   PGP   PKD1   RAB26   RNPS1   SNHG19   SNORD60   TRAF7   TSC2  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000016.9:g.2127606_2334390dup
Human AssemblyChrPosition (strand)Source
GRCh38162,077,605 - 2,284,389CLINVAR
GRCh37162,127,606 - 2,334,390CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Trait Synonyms: Endometrial cancer; Endometrial cancer, somatic; Endometrial carcinoma, somatic

Disease Annotations

Additional Information

External Database Links
RGD Object Information
RGD ID: 13517464
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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