Full data view for gene DONSON

Information The variants shown are described using the NM_017613.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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dbSNP ID     

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Disease     

ID_report     

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Owner     
-?/. 1 c.82A>Cˆ84C>R - r.(?) p.Ser28Arg Parent #2 - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P6 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M no United States European - - - - 1 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - r.82a>cˆ84c>r p.Ser28Arg Paternal (inferred) - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level; one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P1-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 2 affecteds (2F), unaffected heterozygous carrier parents (father not available) F no Italy European - - - - 2 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - r.82a>cˆ84c>r p.Ser28Arg Paternal (inferred) - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P1-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - F no Italy European - - - - 1 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - r.(?) p.(Ser28Arg) Paternal (confirmed) - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P2 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M no (United Kingdom (Great Britain)) European - - - - 1 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - r.(?) p.Ser28Arg Paternal (confirmed) - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA SEQ Peripheral Blood, Saliva samples - ? 28191891-P3 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents F no United Kingdom (Great Britain) European - - - - 1 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - r.(?) p.Ser28Arg Paternal (confirmed) - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P5 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents F no Somalia Somali - - - - 1 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - r.(?) p.Ser28Arg Parent #2 - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P7 PubMed: Reynolds 2017, Journal: Reynolds 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States European - - - - 1 Lynn Boekhoudt
-?/. 1 c.82A>Cˆ84C>R - - p.Ser28Arg Unknown - NA g.(34960864_34960866?) - S28R - DONSON_000004 expression cloning shows normal protein levels, normal subcellular localization (0.9) and complemented loss of endogenous DONSON by rescuing spontaneous fork stalling after DONSON depletion PubMed: Reynolds 2017, Journal: Reynolds 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.82A>Cˆ84C>R - r.(?) p.(Ser28Arg) Parent #2 - likely benign g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level; one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline - - - - - DNA SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P4 PubMed: Reynolds 2017, Journal: Reynolds 2017 1 affected, no parental samples available F no United Kingdom (Great Britain) European - - - - 1 Lynn Boekhoudt
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