Full data view for gene ALDH3A2

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

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

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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     
+/+ - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T c.943C>T - ALDH3A2_000012 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - M no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T c.943C>T - ALDH3A2_000012 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - M no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T c.943C>T - ALDH3A2_000012 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T c.943C>T - ALDH3A2_000012 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T c.943C>T - ALDH3A2_000012 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - M no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T c.943C>T - ALDH3A2_000012 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (25mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (10mg/week), creams 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (20mg/day), creams 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (10mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (10mg/day), creams containing propylene glycol 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009PMID:Ganemo 2009:19197545}, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (20mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (10mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (25mg/day), creams containing propylene glycol 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 sibling of patient 18 (same paper) M ? Sweden - - - - oral acitretin (10mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - creams containing lactic acid and propylene glycol 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (10mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (10mg/day), creams containing propylene glycol and lactic acid 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (25mg/day), creams containing propylene glycol and lactic acid 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 Sibling of patient 9 (same paper) F ? Sweden - - - - oral acitretin (10mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - creams 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - oral acitretin (10mg/day), creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (25mg/day), creams 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - oral acitretin (25mg/day), creams 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - M ? Sweden - - - - creams containing urea 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - creams containing lactic acid and propylene glycol 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T g.19663335C>T C943T - ALDH3A2_000012 "common North Swedish mutation" effect on protein function according to: De Laurenzi, 1997, PMID 9204959 PubMed: Ganemo 2009, Journal: Ganemo 2009 - - Germline - - - - - DNA ? - - SLS - PubMed: Ganemo 2009, Journal: Ganemo 2009 - F ? Sweden - - - - creams containing lactic acid and propylene glycol 1 Maximilian Weustenfeld
+?/+ - c.943C>T r.(?) p.(Pro315Ser) Parent #1 - likely pathogenic g.19566648C>T g.19663335C>T - - ALDH3A2_000012 - PubMed: Sillen 1998 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sillen 1998 - ? no Sweden - - - - - 1 Maximilian Weustenfeld
+?/+ - c.943C>T r.(?) p.(Pro315Ser) Parent #1 - likely pathogenic g.19566648C>T g.19663335C>T - - ALDH3A2_000012 - PubMed: Sillen 1998 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sillen 1998 - ? no Sweden - - - - - 1 Maximilian Weustenfeld
+/+ - c.943C>T r.(?) p.(Pro315Ser) Parent #2 - pathogenic g.19566648C>T g.19663335C>T - - ALDH3A2_000012 - PubMed: Rizzo 2008 - - Germline - - - - - DNA PCR - - SLS - PubMed: Rizzo 2008 - M - United States - - - - - 1 Maximilian Weustenfeld
+/. - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S) - ALDH3A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S) - ALDH3A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T g.19663335C>T ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S) - ALDH3A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.943C>T r.(?) p.(Pro315Ser) Both (homozygous) - pathogenic g.19566648C>T - - - ALDH3A2_000012 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.943C>T r.(?) p.(Pro315Ser) Unknown - pathogenic g.19566648C>T - ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S) - ALDH3A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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