Full data view for gene ALDH3A2

Information The variants shown are described using the NM_000382.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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     

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Age at death     

VIP     

Data_av     

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Owner     
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 - F yes Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 - F yes Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 - M yes Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C - - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 sister of patients 5 and 6; cousin of patient 7 and 8 (same paper) F no Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 sister of patients 5 and 6; cousin of patient 7 and 8 (same paper) F no Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 sister of patients 5 and 6; cousin of patient 7 and 8 (same paper) F no Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 cousin of patients 4,5,6 (same paper) F no Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 cousin of patients 4,5,6 (same paper) M no Brazil - - - - - 1 Maximilian Weustenfeld
+/+ 7i c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 mutation affects splice acceptor site at junction of intron 7 and exon 8 PubMed: Auada 2006, Journal: Auada 2006 - - Germline - - - - - DNA PCR, PCRdig blood - SLS - PubMed: Auada 2006, Journal: Auada 2006 - M yes Brazil - - - - - 1 Maximilian Weustenfeld
+/+ - c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 splice site mutation PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat7 PubMed: Carney 2004, Journal: Carney 2004 probably consanguineous parents ? - (United States) - - - - - 1 Maximilian Weustenfeld
+/+ - c.1108-1G>C r.spl? p.? Unknown - pathogenic g.19568260G>C g.19664947G>C c.1108-1G>C - ALDH3A2_000037 splice site mutation PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat8 PubMed: Carney 2004, Journal: Carney 2004 - ? - (United States) - - - - - 1 Maximilian Weustenfeld
+/+? - c.1108-1G>C r.spl? p.? Paternal (confirmed) - pathogenic g.19568260G>C g.19664947G>C - - ALDH3A2_000037 splice site mutation PubMed: Paiva 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Paiva 2018 - M - (Brazil) - - - - orthopedic procedures for correction of deformities 1 Maximilian Weustenfeld
+/+? - c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C - - ALDH3A2_000037 homozygous state inferred by submitter PubMed: Incecik 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Incecik 2018 patient 3 and 4 are siblings M yes Turkey - - - - - 1 Maximilian Weustenfeld
+/+? - c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C - - ALDH3A2_000037 homozygous state inferred by submitter PubMed: Incecik 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Incecik 2018 patient 3 and 4 are siblings M yes Turkey - - - - - 1 Maximilian Weustenfeld
+/+? - c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C - - ALDH3A2_000037 homozygous state inferred by submitter PubMed: Incecik 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Incecik 2018 patients 7 and 8 are siblings M yes Turkey - - - - - 1 Maximilian Weustenfeld
+/+? - c.1108-1G>C r.spl? p.? Both (homozygous) - pathogenic g.19568260G>C g.19664947G>C - - ALDH3A2_000037 homozygous state inferred by submitter PubMed: Incecik 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Incecik 2018 patients 7 and 8 are siblings F yes Turkey - - - - - 1 Maximilian Weustenfeld
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