Full data view for gene CYP1B1

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

646 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

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Age at death     

VIP     

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Treatment     

Panel size     

Owner     
+/. 2i_3 c.1044-?_(1044_*)del - p.? CYP1B1*16 Parent #1 - pathogenic g.(38297864_38298453)_38298454del - large deletion - CYP1B1_000016 reference haplotype CYP1B1*16 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 2i_3 c.1044-?_(1044_*)del r.spl p.? CYP1B1*16 Parent #1 - pathogenic g.(38297864_38298453)_38298454del - large deletion - CYP1B1_000016 not in 470 control chromosomes; deletion from intron 2 to in exon 3 PubMed: Stoilov 1997, PubMed: Stoilov 1998 - - Germline yes - - - - DNA PCR, SEQ - - Healthy/Control - - 2-generation family, unaffected carrier parents/brother - yes Turkey - - - - - 3 Johan den Dunnen
+/. 2i_3 c.1044-?_(1044_*)del r.spl p.? CYP1B1*16 Paternal (confirmed) - pathogenic g.(38297864_38298453)_38298454del - large deletion - CYP1B1_000016 not in 470 control chromosomes; deletion from intron 2 to in exon 3 PubMed: Stoilov 1997, PubMed: Stoilov 1998 - - Germline yes - - - - DNA PCR, SEQ - - GLC - - 2-generation family, 3 affected sibs - yes Turkey - - - - - 3 Johan den Dunnen
+/. 2i_3 c.1044-?_(1044_*)del r.spl p.? CYP1B1*16 Maternal (confirmed) - pathogenic g.(38297864_38298453)_38298454del - large deletion - CYP1B1_000016 not in 470 control chromosomes; deletion from intron 2 to in exon 3 PubMed: Stoilov 1997, PubMed: Stoilov 1998 - - Germline yes - - - - DNA PCR, SEQ - - GLC - - 2-generation family, 3 affected sibs - yes Turkey - - - - - 3 Johan den Dunnen
?/. - c.-23778260_*10697457dup r.0? p.0? - Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. _1 c.-487dup r.(=) p.(=) - Parent #1 - benign g.38303408dup g.38076266dup dupC - CYP1B1_000098 Alamut:(c.-97dupC) (NCBI c.-98_-96insC) - - rs11379588 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-97dup r.(?) p.(=) - Unknown - likely benign g.38303018dup - CYP1B1(NM_000104.3):c.-98dupC - CYP1B1_001168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.-1-12C>T r.(=) p.(=) - Parent #1 - benign g.38302544G>A g.38075401G>A - - CYP1B1_001005 description contains CT too much PubMed: Stoilov 1998 - - Germline - 39/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 39 Johan den Dunnen
-/. 1i c.-1-12C>T r.(=) p.(=) - Parent #1 - benign g.38302544G>A g.38075401G>A - - CYP1B1_001005 description contains CT too much PubMed: Stoilov 1998 - - Germline - 9/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 9 Johan den Dunnen
-/. 1i c.-1-12C>T r.(=) p.(=) - Parent #2 - benign g.38302544G>A g.38075401G>A - - CYP1B1_001005 description contains CT too much PubMed: Stoilov 1998 - - Germline - 9/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 9 Johan den Dunnen
-/. - c.-1-12C>T r.(=) p.(=) - Unknown - benign g.38302544G>A - - - CYP1B1_001005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1-8G>A r.(=) p.(=) - Unknown - likely benign g.38302540C>T g.38075397C>T CYP1B1(NM_000104.3):c.-1-8G>A - CYP1B1_001153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1_3 c.= - p.= CYP1B1*1 Parent #1 - benign g.= - - - CYP1B1_000001 reference haplotype CYP1B1*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 1_3 c.? - p.? CYP1B1*9 Parent #1 - VUS g.? - - - CYP1B1_000009 reference haplotype CYP1B1*9 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 1_3 c.? - p.? CYP1B1*10 Parent #1 - VUS g.? - - - CYP1B1_000010 reference haplotype CYP1B1*10 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 2 c.2T>C r.(?) p.(Met1Thr) - Parent #1 - pathogenic g.38302530A>G g.38075387A>G - - CYP1B1_001015 - PubMed: Vincent 2001 - rs72549389 Unknown yes - - - - DNA SEQ - - ASGD5 - - - - ? - - - - - - 1 Johan den Dunnen
-?/. - c.11G>C r.(?) p.(Ser4Thr) - Unknown - likely benign g.38302521C>G - CYP1B1(NM_000104.3):c.11G>C (p.R4P) - CYP1B1_001167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.29_30insA r.(?) p.(fs*) - Parent #1 - pathogenic g.38302502_38302503insT g.38075359_38075360insT - - CYP1B1_001027 - PubMed: Panicker 2002 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.55C>T r.(?) p.(Gln19*) - Parent #1 - pathogenic g.38302477G>A g.38075334G>A - - CYP1B1_001029 - PubMed: Stoilov 2002 - rs72549388 Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.71T>G r.(?) p.(Leu24Arg) - Parent #1 - pathogenic g.38302461A>C g.38075318A>C - - CYP1B1_001116 - PubMed: Tanwar 2009 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.83C>G r.(?) p.(Ser28Trp) - Parent #1 - pathogenic g.38302449G>C g.38075306G>C - - CYP1B1_001059 - PubMed: Lopez-Garrido 2006 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.109C>T r.(?) p.(Gln37*) - Parent #1 - pathogenic g.38302423G>A g.38075280G>A - - CYP1B1_001146 - 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
+/. 2 c.124C>T r.(?) p.(Gln42*) - Parent #1 - pathogenic g.38302408G>A g.38075265G>A - - CYP1B1_001053 - PubMed: Chavarria-Soley 2006 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
-/. 2 c.142C>G r.(?) p.(Arg48Gly) - Parent #1 - benign g.38302390G>C g.38075247G>C - - CYP1B1_000002 - - - rs10012 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.142C>G r.(?) p.(Arg48Gly) - Parent #1 - pathogenic g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Hanna 2000 - rs10012 Unknown yes - - - - DNA SEQ - - ? - - - - ? - - - - - - 1 Johan den Dunnen
-/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*2 Parent #1 - NA g.38302390G>C g.38075247G>C - - CYP1B1_000002 expression cloning yeast, normal expression/folding, normal clearance (estradiol) PubMed: Aklillu 2002 - rs10012 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*2 Parent #1 - NA g.38302390G>C g.38075247G>C - - CYP1B1_000002 expression cloning yeast, normal expression/folding and activity PubMed: McLellan 2000 - rs10012 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*6 Parent #1 - NA g.38302390G>C g.38075247G>C - - CYP1B1_000002 expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol) PubMed: Aklillu 2002 - rs10012 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*7 Parent #1 - NA g.38302390G>C g.38075247G>C - - CYP1B1_000002 expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol) PubMed: Aklillu 2002 - rs10012 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.142C>G r.(?) p.Arg48Gly - Parent #1 - NA g.38302390G>C g.38075247G>C - - CYP1B1_000002 expression cloning yeast, normal expression/folding, normal clearance (estradiol) PubMed: Aklillu 2002 - rs10012 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*5 Parent #2 - VUS g.38302390G>C g.38075247G>C 4326C>G - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*6 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*7 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*6 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*6 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*7 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*5 Parent #2 - VUS g.38302390G>C g.38075247G>C 4326C>G - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 10/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 10 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 19/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 19 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 19/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 19 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 2/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 2 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*7 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 3/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 3 Johan den Dunnen
-/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - benign g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Stoilov 1998 - rs10012 Germline - 40/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 40 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 44/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 44 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 7/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 7 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*7 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 7/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 7 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 8/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 8 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*6 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 8/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 8 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*6 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 8/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 8 Johan den Dunnen
-/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #1 - benign g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Stoilov 1998 - rs10012 Germline - 9/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 9 Johan den Dunnen
-/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*2 Parent #2 - benign g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Stoilov 1998 - rs10012 Germline - 9/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 9 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.(Arg48Gly) CYP1B1*7 Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - PubMed: Aklillu 2002 - rs10012 Germline - 9/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 9 Johan den Dunnen
?/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*2 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 reference haplotype CYP1B1*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs10012 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*5 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 reference haplotype CYP1B1*5 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs10012 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*6 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 reference haplotype CYP1B1*6 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs10012 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 2 c.142C>G r.(?) p.Arg48Gly CYP1B1*7 Parent #1 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 reference haplotype CYP1B1*7 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs10012 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 2 c.142C>G r.(?) p.(Arg48Gly) GSLN Parent #2 - VUS g.38302390G>C g.38075247G>C - - CYP1B1_000002 - - - - Germline - - - - - DNA SEQ - - ASGD5 - - - - - - - - - - - 1 Elena Semina
-/. - c.142C>G r.(?) p.(Arg48Gly) - Unknown - benign g.38302390G>C - - - CYP1B1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Pro52Leu) - Parent #1 - VUS g.38302377G>A g.38075234G>A - - CYP1B1_001154 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201824781 Germline - 4/2756 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. - c.155C>T r.(?) p.(Pro52Leu) - Unknown - likely pathogenic g.38302377G>A - CYP1B1(NM_000104.3):c.155C>T (p.P52L), CYP1B1(NM_000104.4):c.155C>T (p.(Pro52Leu)) - CYP1B1_001154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Pro52Leu) - Unknown - VUS g.38302377G>A - CYP1B1(NM_000104.3):c.155C>T (p.P52L), CYP1B1(NM_000104.4):c.155C>T (p.(Pro52Leu)) - CYP1B1_001154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Pro52Leu) - Unknown - VUS g.38302377G>A - CYP1B1(NM_000104.3):c.155C>T (p.P52L), CYP1B1(NM_000104.4):c.155C>T (p.(Pro52Leu)) - CYP1B1_001154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.155dup r.(?) p.(Phe55ValfsTer169) - Parent #1 - pathogenic g.38302381dup g.38075238dup - - CYP1B1_001054 - PubMed: Chavarria-Soley 2006 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+?/. 3 c.157G>A r.(?) p.(Gly53Ser) GSLN Parent #2 - likely pathogenic g.38302375C>T g.38075232C>T 38075228C>T - CYP1B1_001144 - - - - Germline - - - - - DNA SEQ - - ASGD5 - - - - - - - - - - - 1 Elena Semina
+/. 2 c.161del r.(?) p.(Pro54ArgfsTer6) - Parent #1 - pathogenic g.38302373del g.38075230del - - CYP1B1_001016 - PubMed: Mashima 2001 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.167del r.(?) p.(Ala56GlyfsTer4) - Parent #1 - pathogenic g.38302365del g.38075222del - - CYP1B1_001089 - PubMed: Chen 2008 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/+ 2 c.171G>A r.(?) p.(Trp57*) - Parent #1 - pathogenic g.38302361C>T g.38075218C>T - - CYP1B1_001014 - - - rs73464 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.171G>A r.(?) p.(Trp57*) - Parent #1 - pathogenic g.38302361C>T g.38075218C>T - - CYP1B1_001014 - PubMed: Vincent 2001 - - Unknown yes - - - - DNA SEQ - - ASGD5 - - - - ? - - - - - - 1 Johan den Dunnen
+?/. - c.171G>A r.(?) p.(Trp57*) - Both (homozygous) - likely pathogenic g.38302361C>T g.38075218C>T c.171G-->A; p.Trp57* - CYP1B1_001014 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - GLC3A 159 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.171G>A r.(?) p.(Trp57*) - Unknown - likely pathogenic g.38302361C>T g.38075218C>T c.1147G-->A, c.171G-->A; p.Ala383Thr, p.Trp57* - CYP1B1_001014 no Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - STGD1 226 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.171G>A r.(?) p.(Trp57Ter) - Parent #1 - pathogenic (recessive) g.38302361C>T g.38075218C>T - - CYP1B1_001014 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam23974 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 2 c.171G>C r.(?) p.Trp57Cys CYP1B1*11 Parent #1 - pathogenic g.38302361C>G g.38075218C>G - - CYP1B1_000011 reference haplotype CYP1B1*11 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72549387 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/+ 2 c.171G>C r.(?) p.(Trp57Cys) CYP1B1*11 Parent #1 - pathogenic g.38302361C>G g.38075218C>G G517C - CYP1B1_000011 - PubMed: Stoilov 1998 - rs72549387 Germline yes - - - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 affecteds, unaffected heterozygous carrier parents F no United States Hispanic - - - - 2 Johan den Dunnen
+/. 2 c.174del r.(?) p.(Leu59Ter) - Parent #1 - pathogenic g.38302358del g.38075215del - - CYP1B1_001035 - PubMed: Colomb 2003 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.180C>G r.(?) p.(Ile60Met) - Parent #1 - pathogenic g.38302352G>C g.38075209G>C - - CYP1B1_001090 - PubMed: Chen 2008 - - Unknown yes - - - - DNA SEQ - - GLC - - - - ? - - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.Gly61Glu CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T - - CYP1B1_000012 reference haplotype CYP1B1*12 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28936700 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Paternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/3 sibs M no Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Both (homozygous) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/brother - no Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Paternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 4-generation mixed family, 3 unaffected carrier parent/brother - yes Turkey - - - - - 4 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier father - no Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier parents/brother - no Turkey - - - - - 3 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier father - yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Paternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC - - 4-generation mixed family, 2 homozygous affecteds - yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Maternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC - - 4-generation mixed family, 1 heterozygous affected - no Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 8 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
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