Full data view for gene ALDH1A2

Information The variants shown are described using the NM_003888.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.-6G>A r.(?) p.(=) Unknown - likely benign g.58357854C>T g.58065656C>T - - ALDH1A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61G>A r.(?) p.(Ala21Thr) Unknown - VUS g.58357788C>T g.58065590C>T ALDH1A2(NM_001206897.1):c.-100G>A (p.(=)) - ALDH1A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312T>C r.(?) p.(Arg104=) Unknown - likely benign g.58306107A>G g.58013909A>G - - ALDH1A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453A>G r.(?) p.(Ala151=) Unknown - likely benign g.58302887T>C g.58010689T>C ALDH1A2(NM_003888.4):c.453A>G (p.(Ala151=)) - ALDH1A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453A>G r.(?) p.(Ala151=) Unknown - likely benign g.58302887T>C - ALDH1A2(NM_003888.4):c.453A>G (p.(Ala151=)) - ALDH1A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.544C>A r.(?) p.(Gln182Lys) Paternal (confirmed) ACMG pathogenic (recessive) g.58287287G>T g.57995089G>T - - ALDH1A2_000014 - PubMed: Beecroft 2021, Journal: Beecroft 2021 - - Germline - - - - - DNA SEQ-NG-I blood - DA FamAus1PatII1/II3/II6 PubMed: Beecroft 2021, Journal: Beecroft 2021 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M no Australia white <01y - - - 3 Sarah Beecroft
-?/. - c.799-10C>G r.(=) p.(=) Unknown - likely benign g.58258035G>C - ALDH1A2(NM_003888.4):c.799-10C>G - ALDH1A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901+10C>T r.(=) p.(=) Unknown - likely benign g.58257913G>A - ALDH1A2(NM_003888.4):c.901+10C>T - ALDH1A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981C>T r.(?) p.(Phe327=) Unknown - likely benign g.58256188G>A g.57963990G>A - - ALDH1A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1040G>A r.(?) p.(Arg347His) Maternal (confirmed) ACMG pathogenic (recessive) g.58256129C>T g.57963931C>T - - ALDH1A2_000016 - PubMed: Beecroft 2021, Journal: Beecroft 2021 - - Germline yes - - - - DNA SEQ-NG-I - - DA FamITA1 PubMed: Beecroft 2021, Journal: Beecroft 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - <01y - - - 1 Sarah Beecroft
?/. - c.1040G>A r.(?) p.(Arg347His) Unknown - VUS g.58256129C>T - ALDH1A2(NM_003888.4):c.1040G>A (p.(Arg347His)) - ALDH1A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1147G>A r.(?) p.(Ala383Thr) Paternal (confirmed) ACMG pathogenic (recessive) g.58254314C>T g.57962116C>T - - ALDH1A2_000015 - PubMed: Beecroft 2021, Journal: Beecroft 2021 - - Germline yes - - - - DNA SEQ-NG-I - - DA FamITA1 PubMed: Beecroft 2021, Journal: Beecroft 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - <01y - - - 1 Sarah Beecroft
?/. - c.1184A>T r.(?) p.(Lys395Met) Unknown - VUS g.58254277T>A g.57962079T>A ALDH1A2(NM_001206897.2):c.1121A>T (p.K374M) - ALDH1A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254C>A r.(?) p.(Ile418=) Unknown - likely benign g.58253490G>T g.57961292G>T ALDH1A2(NM_001206897.1):c.1191C>A (p.(=)) - ALDH1A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1290G>A r.(?) p.(Thr430=) Unknown - likely benign g.58253454C>T g.57961256C>T ALDH1A2(NM_001206897.2):c.1227G>A (p.T409=) - ALDH1A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295A>G r.(?) p.(Asp432Gly) Unknown - VUS g.58253449T>C - ALDH1A2(NM_003888.4):c.1295A>G (p.D432G) - ALDH1A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1382C>A r.(?) p.(Ser461Tyr) Maternal (confirmed) ACMG pathogenic (recessive) g.58253362G>T g.57961164G>T - - ALDH1A2_000013 - PubMed: Beecroft 2021, Journal: Beecroft 2021 - - Germline - - - - - DNA SEQ-NG-I blood - DA FamAus1PatII1/II3/II6 PubMed: Beecroft 2021, Journal: Beecroft 2021 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M no Australia white <01y - - - 3 Sarah Beecroft
-/. - c.1484+10A>C r.(=) p.(=) Unknown - benign g.58252958T>G - ALDH1A2(NM_003888.4):c.1484+10A>C - ALDH1A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503G>A r.(?) p.(Arg501=) Unknown - likely benign g.58247449C>T g.57955251C>T - - ALDH1A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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