Full data view for gene CYP1B1

Information The variants shown are described using the NM_000104.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

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Disease     

ID_report     

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Owner     
+/. 3 c.1103G>A r.(?) p.(Arg368His) - Parent #1 - pathogenic g.38298394C>T g.38071251C>T - - CYP1B1_001010 - PubMed: Bejjani 2000 - rs28936414 Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 3 c.1103G>A r.(?) p.(Arg368His) - Both (homozygous) - pathogenic g.38298394C>T g.38071251C>T - - CYP1B1_001010 - PubMed: Rauf 2016, Journal: Rauf 2016 - - Germline yes - - - - DNA SEQ - - GLC3A - PubMed: Rauf 2016, Journal: Rauf 2016 family, 1 affecteds - - Pakistan - - - - - 1 Johan den Dunnen
+/. 3 c.1103G>A r.(?) p.(Arg368His) - Parent #2 - pathogenic g.38298394C>T g.38071251C>T - - CYP1B1_001010 - PubMed: Rauf 2016, Journal: Rauf 2016 - - Germline yes - - - - DNA SEQ - - GLC3A - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds F - Pakistan - - - - - 3 Johan den Dunnen
?/. - c.1103G>A r.(?) p.(Arg368His) - Unknown - VUS g.38298394C>T g.38071251C>T CYP1B1(NM_000104.3):c.1102G>A (p.(Arg368His)), CYP1B1(NM_000104.3):c.1103G>A (p.R368Q) - CYP1B1_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103G>A r.(?) p.(Arg368His) - Unknown - likely benign g.38298394C>T g.38071251C>T CYP1B1(NM_000104.3):c.1102G>A (p.(Arg368His)), CYP1B1(NM_000104.3):c.1103G>A (p.R368Q) - CYP1B1_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103G>A r.(?) p.(Arg368His) - Parent #1 - VUS g.38298394C>T g.38071251C>T - - CYP1B1_001010 conflicting interpretations of pathogenicity; 105 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79204362 Germline - 105/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 105 Mohammed Faruq
?/. - c.1103G>A r.(?) p.(Arg368His) - Unknown - VUS g.38298394C>T g.38071251C>T - - CYP1B1_001010 Choudhary et al. 2008. Pharmacogenet Genomics 18: 665; López-Garrido et al. 2010. Clin Genet 77: 70; Kabra et al. 2017. Hum Genet 136: 941 - - rs79204362 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.1103G>A - - - Both (homozygous) - VUS g.38298394C>T g.38071251C>T - - CYP1B1_001010 conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79204362 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.1103G>A r.(?) p.(Arg368His) - Both (homozygous) - VUS (!) g.38298394C>T g.38071251C>T - - CYP1B1_001010 low penetrance variant PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 15DG0617 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1103G>A r.(?) p.(Arg368His) - Parent #2 - VUS (!) g.38298394C>T g.38071251C>T - - CYP1B1_001010 low penetrance variant PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00431 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1103G>A r.(?) p.(Arg368His) - Parent #2 - VUS (!) g.38298394C>T g.38071251C>T - - CYP1B1_001010 low penetrance variant PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00688 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Unknown - likely pathogenic g.38298394C>T g.38071251C>T c.1103G-->A, c.1064_1076del; p.Arg368His, p.Arg355Hisfs*69 - CYP1B1_001010 no Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - GLC3A 128 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Unknown - likely pathogenic g.38298394C>T g.38071251C>T c.1103G-->A, c.290T-->C; p.Arg368His, p.Leu97Pro - CYP1B1_001010 no Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - GLC3A 136 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Maternal (confirmed) - likely pathogenic g.38298394C>T g.38071251C>T c.1103G-->A, c.1169G-->A; p.Arg368His, p.Arg390His - CYP1B1_001010 confirmed with Sanger sequencing; compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG blood - GLC3A 150 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Both (homozygous) - likely pathogenic g.38298394C>T g.38071251C>T c.1103G-->A; p.Arg368His - CYP1B1_001010 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - GLC3A 155 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Unknown ACMG likely pathogenic g.38298394C>T g.38071251C>T CYP1B1 c.1103G>A p.(Arg368His) het CYP1B1 c.1159G>A p.(Glu387Lys) het - CYP1B1_001010 heterozygouserozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 16021601 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Both (homozygous) ACMG likely pathogenic g.38298394C>T g.38071251C>T CYP1B1 c.1103G>A p.(Arg368His) hom - CYP1B1_001010 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 18018901 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1103G>A r.(?) p.(Arg368His) - Maternal (confirmed) - VUS g.38298394C>T g.38071251C>T - - CYP1B1_001010 variant Arg368His has markedly reduced activity PubMed: Prokudin 2014 - rs79204362 Germline - - - - - DNA SEQ, SEQ-NG-I - - MCOP Fam11PatII1 PubMed: Prokudin 2014 2-generation family, 1 affected M - Australia India - - - - 1 Ivan Prokudin
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