Full data view for gene ALDH5A1

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

59 entries on 1 page. Showing entries 1 - 59.
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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.1226G>A r.(?) p.(Gly409Asp) Unknown - VUS g.24528277G>A g.24528049G>A ALDH5A1(NM_001080.3):c.1226G>A (p.(Gly409Asp)) - ALDH5A1_006067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Netherlands - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Netherlands - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - - - Haiti;Spain - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Turkey - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Sweden - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Both (homozygous) - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Denmark - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Both (homozygous) - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Italy - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Both (homozygous) - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Italy - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Italy - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - M - Italy - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #2 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - M - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Both (homozygous) - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Both (homozygous) - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Denmark - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Both (homozygous) - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Greece - - - - - 1 Gajja Salomons
+/+ 8 c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic (recessive) g.24528277G>A g.24528049G>A - - ALDH5A1_006067 - PubMed: Akaboshi 2003, PubMed: Leo 2017 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003, PubMed: Leo 2017 - F - Italy - - - - - 1 Gajja Salomons
+/. - c.1226G>A r.(?) p.(Gly409Asp) Parent #1 - pathogenic g.24528277G>A g.24528049G>A - - ALDH5A1_006067 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118203984 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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