Full data view for gene ALDH5A1

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #1 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - - - - - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #2 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - - - - - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #1 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #2 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - SSADHD - PubMed: Akaboshi 2003 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #1 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #1 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #1 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 3 c.455_456dup r.(?) p.(Ala153fs*12) Parent #1 - pathogenic (recessive) g.24503507_24503508dup g.24503279_24503280dup - - ALDH5A1_006026 - PubMed: Akaboshi 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akaboshi 2003 - - - Netherlands - - - - - 1 Gajja Salomons
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