Full data view for gene ALDH1A3

Information The variants shown are described using the NM_000693.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.43A>G r.(?) p.(Arg15Gly) Unknown - likely benign g.101420155A>G g.100879950A>G ALDH1A3(NM_000693.2):c.43A>G (p.(Arg15Gly)), ALDH1A3(NM_000693.3):c.43A>G (p.R15G) - ALDH1A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.43A>G r.(?) p.(Arg15Gly) Unknown - likely benign g.101420155A>G g.100879950A>G ALDH1A3(NM_000693.2):c.43A>G (p.(Arg15Gly)), ALDH1A3(NM_000693.3):c.43A>G (p.R15G) - ALDH1A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(Glu28=) Unknown - likely benign g.101420196G>A - ALDH1A3(NM_000693.3):c.84G>A (p.E28=) - ALDH1A3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99+7C>A r.(=) p.(=) Unknown - likely benign g.101420218C>A g.100880013C>A ALDH1A3(NM_000693.3):c.99+7C>A - ALDH1A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104T>C r.(?) p.(Phe35Ser) Both (homozygous) - pathogenic (recessive) g.101425476T>C g.100885271T>C - - ALDH1A3_000034 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam9PatI PubMed: Jackson 2020 - F - Pakistan Asia - - - - 1 Johan den Dunnen
+?/. 2i c.204+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.101425577G>A g.100885372G>A - - ALDH1A3_000001 - Schorderet 2014, submitted - - Germline yes - - - - DNA SEQ leukocytes - MCOP8 - - - ? ? - - - - - - 1 Daniel Schorderet
-?/. - c.210C>T r.(?) p.(Asp70=) Unknown - likely benign g.101427782C>T g.100887577C>T ALDH1A3(NM_000693.3):c.210C>T (p.D70=) - ALDH1A3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327G>A r.(?) p.(Arg109=) Unknown - likely benign g.101427899G>A - ALDH1A3(NM_000693.3):c.327G>A (p.R109=) - ALDH1A3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.434C>T r.(?) p.(Ala145Val) Unknown - pathogenic g.101432803C>T g.100892598C>T - - ALDH1A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.434C>T r.(?) p.(Ala145Val) Both (homozygous) - pathogenic (recessive) g.101432803C>T g.100892598C>T - - ALDH1A3_000014 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F2‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.434C>T r.(?) p.(Ala145Val) Both (homozygous) - pathogenic (recessive) g.101432803C>T g.100892598C>T - - ALDH1A3_000014 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F3‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.434C>T r.(?) p.(Ala145Val) Both (homozygous) - pathogenic (recessive) g.101432803C>T g.100892598C>T - - ALDH1A3_000014 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F4‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.434C>T r.(?) p.(Ala145Val) Both (homozygous) - pathogenic (recessive) g.101432803C>T g.100892598C>T - - ALDH1A3_000014 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F5‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.475G>C r.(?) p.(Asp159His) Unknown - pathogenic g.101432844G>C - ALDH1A3(NM_000693.4):c.475G>C (p.D159H) - ALDH1A3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475+6C>T r.(=) p.(=) Unknown - likely benign g.101432850C>T - ALDH1A3(NM_000693.4):c.475+6C>T - ALDH1A3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>A r.(?) p.(Val163Met) Unknown - VUS g.101433161G>A g.100892956G>A ALDH1A3(NM_000693.3):c.487G>A (p.V163M) - ALDH1A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538-5C>T r.spl? p.? Unknown - VUS g.101434154C>T - ALDH1A3(NM_000693.3):c.538-5C>T - ALDH1A3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807G>A r.(?) p.(Ala269=) Unknown - likely benign g.101438314G>A g.100898109G>A ALDH1A3(NM_000693.3):c.807G>A (p.A269=) - ALDH1A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833C>T r.(?) p.(Thr278Met) Unknown - VUS g.101438340C>T - ALDH1A3(NM_000693.4):c.833C>T (p.(Thr278Met)) - ALDH1A3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.845G>C r.(?) p.(Gly282Ala) Both (homozygous) - likely pathogenic g.101438352G>C g.100898147G>C ALDH1A3 c.845G>C, (p.Gly282Ala) - ALDH1A3_000032 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 158 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - 1 LOVD
+?/. - c.845G>C r.(?) p.(Gly282Ala) Both (homozygous) - likely pathogenic g.101438352G>C g.100898147G>C ALDH1A3 c.845G>C, (p.Gly282Ala) - ALDH1A3_000032 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 159 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - 1 LOVD
-?/. - c.864C>T r.(?) p.(Ile288=) Unknown - likely benign g.101438371C>T - ALDH1A3(NM_000693.3):c.864C>T (p.I288=) - ALDH1A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.874G>T r.(?) p.(Asp292Tyr) Maternal (confirmed) - likely pathogenic g.101438381G>T g.100898176G>T error in annotation: c.553G-->T, c.1072A-->T; p.Asp292Tyr, p.Ile465Phe - ALDH1A3_000028 confirmed with Sanger sequencing; compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - MCOP8 25 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.884-10C>T r.(=) p.(=) Unknown - likely benign g.101440770C>T g.100900565C>T ALDH1A3(NM_000693.3):c.884-10C>T - ALDH1A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.898G>T r.(?) p.(Glu300*) Both (homozygous) - likely pathogenic g.101440794G>T g.100900589G>T - - ALDH1A3_000002 - Schorderet 2014, submitted - - Germline ? - - - - DNA SEQ leukocytes - MCOP8 - - - ? ? - - - - - - 1 Daniel Schorderet
-?/. - c.978C>G r.(?) p.(Val326=) Unknown - likely benign g.101440874C>G - ALDH1A3(NM_000693.3):c.978C>G (p.V326=) - ALDH1A3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037C>T r.(?) p.(Pro346Leu) Unknown - VUS g.101440933C>T g.100900728C>T ALDH1A3(NM_000693.3):c.1037C>T (p.P346L) - ALDH1A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1064C>G r.(?) p.(Pro355Arg) Both (homozygous) - likely pathogenic g.101440960C>G g.100900755C>G - - ALDH1A3_000003 - Schorderet 2014, submitted - - Germline ? - - - - DNA SEQ leukocytes - MCOP8 - - - ? ? - - - - - - 1 Daniel Schorderet
-?/. - c.1102C>T r.(?) p.(Leu368=) Unknown - likely benign g.101445761C>T - ALDH1A3(NM_000693.3):c.1102C>T (p.L368=) - ALDH1A3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1105A>T r.(?) p.(Ile369Phe) Both (homozygous) - pathogenic (recessive) g.101445764A>T g.100905559A>T - - ALDH1A3_000027 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F1‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1105A>T r.(?) p.(Ile369Phe) Both (homozygous) - pathogenic (recessive) g.101445764A>T g.100905559A>T - - ALDH1A3_000027 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F6‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - 1 LOVD
?/. - c.1126G>C r.(?) p.(Gly376Arg) Unknown - VUS g.101445785G>C - ALDH1A3(NM_000693.4):c.1126G>C (p.(Gly376Arg)) - ALDH1A3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1134G>A r.(?) p.(Lys378=) Unknown - likely benign g.101445793G>A g.100905588G>A ALDH1A3(NM_000693.3):c.1134G>A (p.K378=) - ALDH1A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1143C>T r.(?) p.(Cys381=) Unknown - likely benign g.101445802C>T g.100905597C>T ALDH1A3(NM_000693.3):c.1143C>T (p.C381=) - ALDH1A3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 10 c.1148G>A r.(?) p.(Gly383Asp) Both (homozygous) - likely pathogenic g.101445807G>A g.100905602G>A - - ALDH1A3_000004 - Schorderet 2014, submitted - - Germline yes - - - - DNA SEQ leukocytes - MCOP8 - - - M yes Egypt - - - - - 4 Daniel Schorderet
+?/. 10 c.1231G>A r.(?) p.(Glu411Lys) Both (homozygous) - likely pathogenic g.101445890G>A g.100905685G>A - - ALDH1A3_000005 - Schorderet 2014, submitted - - Germline ? - - - - DNA SEQ leukocytes - MCOP8 - - - ? ? - - - - - - 1 Daniel Schorderet
-?/. - c.1293A>G r.(?) p.(Arg431=) Unknown - likely benign g.101447385A>G g.100907180A>G ALDH1A3(NM_000693.3):c.1293A>G (p.R431=) - ALDH1A3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365T>G r.(?) p.(Ala455=) Unknown - likely benign g.101447457T>G g.100907252T>G ALDH1A3(NM_000693.3):c.1365T>G (p.A455=) - ALDH1A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386G>A r.(?) p.(Thr462=) Unknown - likely benign g.101447478G>A - ALDH1A3(NM_000693.3):c.1386G>A (p.T462=) - ALDH1A3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386G>C r.(?) p.(Thr462=) Unknown - likely benign g.101447478G>C g.100907273G>C ALDH1A3(NM_000693.3):c.1386G>C (p.T462=) - ALDH1A3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11i c.1391+1G>T r.spl? p.? Both (homozygous) - likely pathogenic g.101447484G>T g.100907279G>T - - ALDH1A3_000006 - Schorderet 2014, submitted - - Germline yes - - - - DNA SEQ leukocytes - MCOP8 - - - ? ? - - - - - - 1 Daniel Schorderet
+?/. - c.1393A>T r.(?) p.(Ile465Phe) Paternal (confirmed) - likely pathogenic g.101448614A>T g.100908409A>T error in annotation: c.553G-->T, c.1072A-->T; p.Asp292Tyr, p.Ile465Phe - ALDH1A3_000029 confirmed with Sanger sequencing; compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - MCOP8 25 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.1407C>T r.(?) p.(Asn469=) Unknown - likely benign g.101448628C>T g.100908423C>T ALDH1A3(NM_000693.3):c.1407C>T (p.N469=) - ALDH1A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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