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Variant : CV820978 (NC_000017.10:g.(?_6589506)_(8151374_?)dup) Homo sapiens

Symbol: CV820978
Name: NC_000017.10:g.(?_6589506)_(8151374_?)dup
Condition: Dyskeratosis congenita [RCV001031775]
Clinical Significance: uncertain significance
Last Evaluated: 11/16/2019
Review Status: criteria provided, single submitter
Related Genes: ACADVL   ACAP1   ALOX12   ALOX12B   ALOX15B   ALOXE3   ASGR1   ASGR2   ATP1B2   AURKB   BCL6B   BORCS6   C17orf49   CD68   CHD3   CHRNB1   CLDN7   CLEC10A   CNTROB   CTC1   CTDNEP1   CYB5D1   DLG4   DNAH2   DVL2   EFNB3   EIF4A1   EIF5A   ELP5   FBXO39   FGF11   FXR2   GABARAP   GPS2   GUCY2D   HES7   KCNAB3   KCTD11   KDM6B   MIR195   MIR497HG   MPDU1   NAA38   NEURL4   NLGN2   PER1   PHF23   PLSCR3   POLR2A   RNASEK   SAT2   SENP3   SHBG   SLC13A5   SLC16A11   SLC16A13   SLC2A4   SLC35G6   SOX15   SPEM1   SPEM2   TEKT1   TMEM102   TMEM107   TMEM256   TMEM88   TMEM95   TNFSF12   TNFSF12-TNFSF13   TNFSF13   TNK1   TP53   TRAPPC1   TRG-GCC2-6   TRK-TTT3-5   TRL-TAG1-1   TRQ-CTG1-5   TRR-TCT2-1   VAMP2   WRAP53   XAF1   YBX2   ZBTB4  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000017.10:g.(?_6589506)_(8151374_?)dup
Human AssemblyChrPosition (strand)Source
GRCh37176,589,506 - 8,151,374CLINVAR
Cytogenetic Map1717p13.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26890695
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE


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