Full data view for gene ALDOB

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

105 entries on 2 pages. Showing entries 1 - 100.
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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.448G>C r.(?) p.(Ala150Pro) Unknown - pathogenic g.104189856C>G g.101427574C>G ALDOB(NM_000035.4):c.448G>C (p.A150P) - ALDOB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic g.104189856C>G g.101427574C>G - - ALDOB_000006 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800546 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - - Germline - - - - - DNA ASO - - HFI Pat5 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1995 - rs1800546 Germline - - - - - DNA SEQ - - HFI Fam1PatIII20/21/22/23 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Maternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2010 - rs1800546 Germline - 91/244 chromosomes (cases) - - - DNA SEQ - - HFI FamPatSR PubMed: Esposito 2010 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Italy - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2010 - rs1800546 Germline - 91/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2004, PubMed: Esposito 2010 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Santamaria 1996 - rs1800546 Germline - - - - - DNA SEQ - - HFI Pat12 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1998 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1998 - - - Finland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam1 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam3 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam8 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam16 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam17 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam18 PubMed: Sanchez-Gutierrez 2002 2-generation family, 3 affected - - Spain - - - - - 3 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam71F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam468F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Santer 2005 - rs1800546 Germline - 93/144 chromosomes cases - - - DNA HD, SEQ - - HFI - PubMed: Santer 2005 2-generation family, father A150P homozygot - - Germany Europe Central - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam2 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam6 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam7 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam12 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam13 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam19 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam210F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 unknown variant 2nd chromosome PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI patients PubMed: Davit-Spraul 2008 - - - France - - - - - 23 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Santer 2005 - rs1800546 Germline - 93/144 chromosomes cases - - - DNA DHPLC, SSCA, SEQ - - HFI - PubMed: Santer 2005 - - - - Europe Central - - - - 93 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 no variant 2nd chromosome PubMed: Santer 2005 - rs1800546 Germline - 17/2000 controls - - - DNA DHPLC, SEQ - - HFI - PubMed: Santer 2005 analysis 2000 healthy newborns - - - Europe Central - - - - 17 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 unknown variant 2nd chromosome PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA SEQ - - HFI - PubMed: Cross 1988 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - Italy Sicily - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1988 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1988 - - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI patients PubMed: Davit-Spraul 2008 - - - France - - - - - 44 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - rs1800546 Germline - - - - - DNA ASO - - HFI Pat2 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - rs1800546 Germline - - - - - DNA ASO - - HFI Pat3 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - - Germline - - - - - DNA ASO - - HFI Pat4 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - rs1800546 Germline - - - - - DNA ASO - - HFI Pat8 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam663F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam717F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 families - - Poland - - - - - 13 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA ASO - - HFI patient PubMed: Cross 1990 - - - Yugoslavia - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI Fam6 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI Fam4 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI Fam5 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI Fam8 PubMed: Davit-Spraul 2008 family, 3 affected sibs F;M - France - - - - - 3 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI Fam9 PubMed: Davit-Spraul 2008 family, affected twins - - France - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Davit-Spraul 2008 - rs1800546 Germline - 73/92 cases - - - DNA SEQ - - HFI Fam10 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G - - ALDOB_000006 - PubMed: Dazzo 1990 - - Germline - - - - - DNA SEQ - - HFI FamPatII1 PubMed: Dazzo 1990 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - rs1800546 Germline - - - - - DNA ASO - - HFI Pat1 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - rs1800546 Germline - - - - - DNA ASO - - HFI Pat9 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1994 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1994 3-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Europe;Cherokee/Karok indian - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Cross 1990 - rs1800546 Germline - - - - - DNA SEQ - - HFI PatF13 PubMed: Cross 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2004, PubMed: Esposito 2010 - rs1800546 Germline - 91/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1998 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1998 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1994 - rs1800546 Germline - - - - - DNA SEQ - - HFI family PubMed: Ali 1994 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Italy - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Maternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1996 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1996 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents - - New Zealand - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Santamaria 1996 - rs1800546 Germline - - - - - DNA SEQ - - HFI Pat5 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Maternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam11 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA, RNA RT-PCR, SEQ - - HFI Fam529F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Gruchota 2006 - rs1800546 Germline - 32/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Coffee 2010 - rs1800546 Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat50 - - United States white - - - - 1 Johan den Dunnen
+?/. - c.448G>C r.(?) p.(Ala150Pro) Unknown - likely pathogenic g.104189856C>G - ALDOB(NM_000035.4):c.448G>C (p.A150P) - ALDOB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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