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Variant : CV652679 (NC_000017.11:g.(?_7669599)_(8382320_?)del) Homo sapiens

Symbol: CV652679
Name: NC_000017.11:g.(?_7669599)_(8382320_?)del
Condition: Li-Fraumeni syndrome [RCV000803922]
Clinical Significance: pathogenic
Last Evaluated: 04/17/2019
Review Status: criteria provided, single submitter
Related Genes: ALOX12B   ALOX15B   ALOXE3   ARHGEF15   AURKB   BORCS6   CHD3   CNTROB   CTC1   CYB5D1   DNAH2   EFNB3   GUCY2D   HES7   KCNAB3   KDM6B   KRBA2   LINC00324   MIR4314   MIR4521   MIR6883   NAA38   ODF4   PER1   PFAS   RANGRF   RNF227   RPL26   SCARNA21   SLC25A35   SNORD118   TMEM107   TMEM88   TP53   TRAPPC1   TRD-GTC2-11   TRG-GCC2-6   TRG-TCC3-1   TRI-AAT4-1   TRI-AAT5-5   TRK-TTT3-5   TRL-TAG1-1   TRP-CGG1-3   TRQ-CTG1-5   TRR-TCT2-1   TRS-AGA2-6   TRS-CGA1-1   TRS-GCT4-3   TRT-AGT1-1   TRT-AGT1-2   TRT-AGT5-1   TRW-CCA1-1   TRW-CCA3-3   VAMP2   WRAP53  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.10:g.(?_7572917)_(8285638_?)del
NC_000017.11:g.(?_7669599)_(8382320_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38177,669,599 - 8,382,320CLINVAR
GRCh37177,572,917 - 8,285,638CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Sarcoma family syndrome of Li and Fraumeni



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14716464
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-07-28
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.