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.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 9 c.1466A>C - r.1466a>c p.Lys489Thr Paternal (inferred) - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(1466a>c) p.(Lys489Thr) Paternal (inferred) - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(1466a>c) p.(Lys489Thr) Paternal (confirmed) - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(1466a>c) p.(Lys489Thr) Paternal (confirmed) - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(1466a>c) p.(Lys489Thr) Paternal (confirmed) - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(1466a>c) p.(Lys489Thr) Parent #2 - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(1466a>c) p.(Lys489Thr) Parent #2 - pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 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
+/. 9 c.1466A>C - r.(?) p.Lys489Thr Unknown - NA g.34951753T>G g.33579447T>G K489T - DONSON_000003 expression cloning showed reduced protein levels, normal subcellular localization (0.9) and did not complement loss of endogenous DONSON by rescuing spontaneous fork stalling after DONSON depletion PubMed: Reynolds 2017, Journal: Reynolds 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1466A>C - r.(?) p.(Lys489Thr) Parent #2 - pathogenic g.34951753T>G g.33579447T>G - - DONSON_000003 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
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.