Full data view for gene CBS

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

40 entries on 1 page. Showing entries 1 - 40.
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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     

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Owner     
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.03 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat13 (sib15) PubMed: Janosik 2001, PubMed: Linnebank 2004 - M - Slovakia (Slovak Republic) - - - - partially pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.00 nM/mg/h PubMed: Janosik 2001 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat15 (sib13) PubMed: Janosik 2001 - F - Slovakia (Slovak Republic) - - - - partially pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.00 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat4 PubMed: Janosik 2001, PubMed: Linnebank 2004 - M - Czech Republic - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.05 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat19 PubMed: Janosik 2001, PubMed: Linnebank 2004 - F - Czech Republic - - - - pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.10 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat6 PubMed: Janosik 2001, PubMed: Linnebank 2004 - M - Slovakia (Slovak Republic) - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.1224_1358del p.Trp409_Gly453del Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kraus 1999, H Koch - - Germline - - MspI+ - - DNA, RNA RT-PCR, SEQ - - CBSD CM PubMed: Kraus 1999, H Koch - - - Germany - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Paternal (confirmed) - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kozich and Kraus 1992 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat366 PubMed: Kozich and Kraus 1992 - - - - Jewish - - - pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #2 - pathogenic g.44479080T>G g.43058970T>G - - CBS_000091 - PubMed: Kraus 1999, M Tsai - - Germline - - MspI+ - - DNA SEQ - - CBSD TD PubMed: Kraus 1999, M Tsai - - - - - - - - pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kraus 1999, M Tsai - - Germline - - MspI+ - - DNA SEQ - - CBSD TD PubMed: Kraus 1999, M Tsai - - - - - - - - pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Both (homozygous) - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kraus 1999, H Koch - - Germline - - MspI+ - - DNA SEQ - - CBSD MK66 PubMed: Kraus 1999, H Koch - - - Germany - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Austria - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Turkey - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.[-8_209del,153_209del] p.? Unknown - pathogenic g.44479080T>G g.43058970T>G - - CBS_000091 - PubMed: Chen 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CBSD - PubMed: Chen 1999 - - - Japan - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.00 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat2 PubMed: Janosik 2001, PubMed: Linnebank 2004 - M - Czech Republic - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 CBS activity 0.33 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat9 PubMed: Janosik 2001, PubMed: Linnebank 2004 - F - Slovakia (Slovak Republic) - - - - partially pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 no variant 2nd allele identified PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD Pat12 PubMed: Janosik 2001, PubMed: Linnebank 2004 - M - Slovakia (Slovak Republic) - - - - partially pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.1224_1358del p.Trp409_Gly453del Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Orendae 2004 - - Germline - - MspI+ - - DNA, RNA RT-PCR, SEQ - - CBSD Pat4 PubMed: Orendae 2004 - - - Poland - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.1224_1358del p.Trp409_Gly453del Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Orendae 2004 - - Germline - - MspI+ - - DNA, RNA RT-PCR, SEQ - - CBSD Pat1 (sib Pat2) PubMed: Orendae 2004 - - - Poland - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.1224_1358del p.Trp409_Gly453del Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Orendae 2004 - - Germline - - MspI+ - - DNA, RNA RT-PCR, SEQ - - CBSD Pat2 (sib Pat1) PubMed: Orendae 2004 - - - Poland - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Poland - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Poland - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Poland - - - - - 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - CBS mutation database, Linnebank - - Germline - - MspI+ - - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Poland - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #2 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kozich 1997 - - Germline - - - - - DNA SEQ - - CBSD Pat174 PubMed: Kozich 1997 - - - Slovakia (Slovak Republic) - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kozich 1997 - - Germline - - - - - DNA SEQ - - CBSD Pat405 PubMed: Kozich 1997 - - - Czech Republic - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-3 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Both (homozygous) - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-11 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-12 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-13 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-16 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Both (homozygous) - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-26 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-34 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-35 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-37 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #1 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Linnebank 2004 - - Germline - - MspI+ - - DNA SEQ - - CBSD GER-38 PubMed: Linnebank 2004 - - - Germany - - - - - 1 Johan den Dunnen
+/. ? c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Parent #2 - pathogenic g.44479080T>G g.43058970T>G IVS11-2A>C - CBS_000091 - PubMed: Kraus 1999, V Kozich - - Germline - - - - - DNA SEQ - - CBSD 427 PubMed: Kraus 1999, V Kozich - - - Hungary - - - - partially pyridoxine responsive 1 Johan den Dunnen
+/. 13i c.1224-2A>C - r.(1224_1358del) p.(Trp409_Gly453del) Unknown - pathogenic g.44479080T>G g.43058970T>G - - CBS_000091 - PubMed: Sokolova 2001 - - Germline - 7/9770000 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Sokolova 2001 biochemical screen 4885000 individuals - - Czech Republic;Slovenia - - - - - 7 Johan den Dunnen
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