Full data view for gene ALDOB

Information The variants shown are described using the NM_000035.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.524C>A r.(?) p.(Ala175Asp) Unknown - pathogenic g.104189780G>T g.101427498G>T ALDOB(NM_000035.4):c.524C>A (p.A175D) - ALDOB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Yugoslavia - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sebastio 1991 - rs76917243 Germline - - - - - DNA ASO - - HFI Pat1 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sebastio 1991 - rs76917243 Germline - - - - - DNA ASO - - HFI Pat9 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Paternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Ali 1994 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Ali 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Paternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Ali 1995 - rs76917243 Germline - - - - - DNA SEQ - - HFI Fam1PatIII33/34/35/36/IV16 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Paternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 - PubMed: Esposito 2010 - rs76917243 Germline - 80/244 chromosomes (cases) - - - DNA SEQ - - HFI FamPat PubMed: Esposito 2010 2-generation family, affected parent F - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 - PubMed: Esposito 2010 - rs76917243 Germline - 80/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Santamaria 1996 - rs76917243 Germline - - - - - DNA SEQ - - HFI Pat11 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Paternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Santamaria 1996 - rs76917243 Germline - - - - - DNA SEQ - - HFI Pat3 PubMed: Santamaria 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #2 - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 - PubMed: Gruchota 2006 - rs76917243 Germline - 3/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 unknown variant 2nd chromosome PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 unknown variant 2nd chromosome PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T - - ALDOB_000009 unknown variant 2nd chromosome PubMed: Davit-Spraul 2008 - - Germline - 21/92 cases - - - DNA SEQ - - HFI patients PubMed: Davit-Spraul 2008 - - - France - - - - - 12 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 unknown variant 2nd chromosome PubMed: Santer 2005 - rs76917243 Germline - 16/144 chromosomes cases - - - DNA DHPLC, SSCA, SEQ - - HFI - PubMed: Santer 2005 - - - - Europe Central - - - - 16 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 no variant 2nd chromosome PubMed: Santer 2005 - rs76917243 Germline - 3/2000 controls - - - DNA DHPLC, SEQ - - HFI - PubMed: Santer 2005 analysis 2000 healthy newborns - - - Europe Central - - - - 3 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Italy Sicily - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T - - ALDOB_000009 - PubMed: Davit-Spraul 2008 - - Germline - 21/92 cases - - - DNA SEQ - - HFI patients PubMed: Davit-Spraul 2008 - - - France - - - - - 8 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sebastio 1991 - rs76917243 Germline - - - - - DNA ASO - - HFI Pat6 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sebastio 1991 - rs76917243 Germline - - - - - DNA ASO - - HFI Pat7 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sanchez-Gutierrez 2002 - rs76917243 Germline - 4/42 chromosomes cases - - - DNA SEQ - - HFI Fam476F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 - PubMed: Gruchota 2006 - rs76917243 Germline - 3/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #1 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA SEQ - - HFI patient PubMed: Cross 1990 - - - Italy Sicily - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #2 - pathogenic (recessive) g.104189780G>T g.101427498G>T - - ALDOB_000009 - PubMed: Davit-Spraul 2008 - - Germline - 21/92 cases - - - DNA SEQ - - HFI Fam2 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #2 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sebastio 1991 - rs76917243 Germline - - - - - DNA ASO - - HFI Pat5 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #2 - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Cross 1990 - rs76917243 Germline - - - - - DNA SEQ - - HFI PatG10 PubMed: Cross 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #2 - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 - PubMed: Esposito 2004, PubMed: Esposito 2010 - rs76917243 Germline - 80/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Parent #2 - pathogenic (recessive) g.104189780G>T g.101427498G>T A175D - ALDOB_000009 - PubMed: Esposito 2004, PubMed: Esposito 2010 - rs76917243 Germline - 80/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Maternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Santamaria 1996 - rs76917243 Germline - - - - - DNA SEQ - - HFI patient PubMed: Santamaria 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Maternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sanchez-Gutierrez 2002 - rs76917243 Germline - 4/42 chromosomes cases - - - DNA SEQ - - HFI Fam3 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.524C>A r.(?) p.(Ala175Asp) Maternal (confirmed) - pathogenic (recessive) g.104189780G>T g.101427498G>T A174D - ALDOB_000009 - PubMed: Sanchez-Gutierrez 2002 - rs76917243 Germline - 4/42 chromosomes cases - - - DNA SEQ - - HFI Fam17 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.524C>A r.(?) p.(Ala175Asp) Both (homozygous) - likely pathogenic g.104189780G>T g.101427498G>T NM_000035.3:c.524C>A; p.Ala175Asp - ALDOB_000009 - PubMed: Nair 2018 - rs76917243 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing HFI ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+/. - c.524C>A r.(?) p.(Ala175Asp) Unknown - pathogenic g.104189780G>T - ALDOB(NM_000035.4):c.524C>A (p.A175D) - ALDOB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.524C>A r.(?) p.(Ala175Asp) Unknown - pathogenic g.104189780G>T - - - ALDOB_000009 - - - rs76917243 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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