Full data view for gene CBS

Information The variants shown are described using the NM_000071.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. 7 c.572C>T - r.(?) p.Thr191Met Unknown - NA g.44485591G>A g.43065481G>A - - CBS_000159 expression cloning in E.coli, CBs activity 0.01 Kluijtmans 1998, PhD thesis - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Kraus 1999, L Kluijtmans - - Germline - - FokI+ - - DNA SEQ - - CBSD S PubMed: Kraus 1999, L Kluijtmans - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat05 PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #2 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat03a/b PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #2 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat03b PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat02 PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat16 PubMed: Urreizti 2003 - - - Portugal - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat13 PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat09 PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #1 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat10 PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat17 PubMed: Urreizti 2003 - - - Portugal - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2003 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat20 PubMed: Urreizti 2003 - - - Spain - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: De Lucca 2004 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat2954 PubMed: De Lucca 2004 - - - Venezuela indigenous - - - partially pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - Germline - - FokI+ - - DNA SEQ - - CBSD - Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1) - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat53a PubMed: Urreizti 2006 - - - Colombia - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat53b PubMed: Urreizti 2006 - - - Colombia - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #2 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat51 PubMed: Urreizti 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 11 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 13 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 16 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 1 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 4 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 5 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Bermudez 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD 8 PubMed: Bermudez 2006 - - - Colombia - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat34 PubMed: Urreizti 2006 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat21a PubMed: Urreizti 2006 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat21b PubMed: Urreizti 2006 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #1 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat28 PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #1 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat30a/b PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Parent #1 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat40 PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat41a PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat41b PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat33a PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat33b PubMed: Urreizti 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Unknown - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Cozar 2011 - - Germline - - FokI+ - - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. ? c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 - PubMed: Porto 2005 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat256 PubMed: Porto 2005 - - - Brazil - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. ? c.572C>T - r.(?) p.(Thr191Met) Parent #1 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 no variant 2nd allele identified PubMed: Porto 2005 - - Germline - - FokI+ - - DNA SEQ - - CBSD Pat118 PubMed: Porto 2005 - - - Brazil - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. - c.572C>T - r.(?) p.(Thr191Met) Parent #1 - pathogenic g.44485591G>A g.43065481G>A - - CBS_000159 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121964973 Germline - 2/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) ACMG pathogenic (recessive) g.44485591G>A g.43065481G>A - - CBS_000159 Martin-Rivada 2022:35281663, Kalil 2020:33335839, Wen 2020:32769498 - ClinVar-132 rs121964973 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CBSD 3bINP-046 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) ACMG pathogenic (recessive) g.44485591G>A g.43065481G>A - - CBS_000159 Martin-Rvada 2022:35281663, Kalil 2020:33335839, Wen 2020:32769498 - ClinVar-132 rs121964973 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CBSD 3bINP-087 PubMed: Vela-Amieva 2024 Familial case (brother affected) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 7 c.572C>T - r.(?) p.(Thr191Met) Both (homozygous) ACMG pathogenic (recessive) g.44485591G>A g.43065481G>A - - CBS_000159 This pathogenic variant that is responsible of DHomocystinuria, B6-responsive and nonresponsive types (OMIM: 236200) was identified in co-occurrence with the PIKFYVE heterozygous pathogenic variant NM_015040.4:c.853_854del, p.Leu285Phefs*19, causing Corneal fleck dystrophy (OMIM: 121850); Martín-Rivada 2022:35281663, Kalil 2020:33335839, Wen 2020:32769498 - ClinVar-132 rs121964973 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CBSD 3bINP-109 PubMed: Vela-Amieva 2024 Co-occurrence of two different monogenic diseases. M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
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