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     

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     
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA SEQ Peripheral Blood, Saliva samples - ? 28191891-P11 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.786_964del p.Ser263Tyrfs*2 Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA, RNA RT-PCR, SEQ Peripheral Blood, Saliva samples - ? 28191891-P12 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents (no parental samples available) F yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA SBE Peripheral Blood, Saliva samples - ? 28191891-P14 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA SEQ Peripheral Blood, Saliva samples - ? 28191891-P15 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA SEQ Peripheral Blood, Saliva samples - ? 28191891-P16 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA SEQ Peripheral Blood, Saliva samples - ? 28191891-P17 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA SEQ Peripheral Blood, Saliva samples - ? 28191891-P18-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents F yes Saudi Arabia Middle eastern (Saudi) - - - - 3 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P18-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - M yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
+/. 4i c.786-22A>G - r.spl p.(=) Both (homozygous) - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Peripheral Blood, Saliva samples - ? 28191891-P18-3 PubMed: Reynolds 2017, Journal: Reynolds 2017 - F yes Saudi Arabia Middle eastern (Saudi) - - - - 1 Lynn Boekhoudt
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