Full data view for gene CYP1B1

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

47 entries on 1 page. Showing entries 1 - 47.
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+/. 3 c.1294C>G r.(?) p.(Leu432Val) - Parent #1 - pathogenic g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Fukatsu 2004 - rs1056836 Unknown yes - - - - DNA SEQ - - ? - - - - ? - - - - - - 1 Johan den Dunnen
-/. 3 c.1294C>G - p.Leu432Val CYP1B1*3 Parent #1 - NA g.38298203G>C g.38071060G>C - - CYP1B1_000003 expression cloning yeast, normal expression/folding, normal clearance (estradiol) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1294C>G - p.Leu432Val CYP1B1*6 Parent #1 - NA g.38298203G>C g.38071060G>C - - CYP1B1_000003 expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1294C>G - p.Leu432Val CYP1B1*7 Parent #1 - NA g.38298203G>C g.38071060G>C - - CYP1B1_000003 expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.1294C>G - p.Leu432Val - Parent #1 - NA g.38298203G>C g.38071060G>C - - CYP1B1_000003 expression cloning yeast, normal expression/folding, normal clearance (estradiol) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.1294C>G - p.Leu432Val - Parent #1 - NA g.38298203G>C g.38071060G>C - - CYP1B1_000003 expression cloning yeast, normal expression/folding, normal clearance (estradiol) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*6 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*6 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*5 Parent #2 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*7 Parent #2 - VUS g.38298203G>C g.38071060G>C 4360C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*6 Parent #2 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*7 Parent #2 - VUS g.38298203G>C g.38071060G>C 4360C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*5 Parent #2 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 1/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 10/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 10 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C G>C (Val432Leu) - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Stoilov 1998 - rs1056836 Germline - 11/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 11 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #2 - benign g.38298203G>C g.38071060G>C G>C (Val432Leu) - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Stoilov 1998 - rs1056836 Germline - 11/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 11 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 134/328 chromosomes Eco57I- - - DNA PCRdig - - Healthy/Control - - - - - United States white - - - - 134 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 19/164 cases Eco57I- - - DNA PCRdig - - ? - - - - - United States - - - - - 19 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #2 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 19/164 cases Eco57I- - - DNA PCRdig - - ? - - - - - United States - - - - - 19 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 21/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 21 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #2 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 21/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 21 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 27/164 cases Eco57I- - - DNA PCRdig - - ? - - - - - United States - - - - - 27 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #2 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 27/164 cases Eco57I- - - DNA PCRdig - - ? - - - - - United States - - - - - 27 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*7 Parent #1 - VUS g.38298203G>C g.38071060G>C 4360C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 3/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 3 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 3/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 3 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C G>C (Val432Leu) - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Stoilov 1998 - rs1056836 Germline - 35/100 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 35 Johan den Dunnen
-/- 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1640G>C (Val432Leu) - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Stoilov 1997 - rs1056836 Germline - 36/70 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 36 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #2 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 44/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 44 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*7 Parent #2 - VUS g.38298203G>C g.38071060G>C 4360C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 7/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 7 Johan den Dunnen
-/- 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1640G>C (Val432Leu) - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Stoilov 1997 - rs1056836 Germline - 7/70 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 7 Johan den Dunnen
-/- 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1640G>C (Val432Leu) - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Stoilov 1997 - rs1056836 Germline - 7/70 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Turkey;United Kingdom (Great Britain) - - - - - 7 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 8/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 8 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*6 Parent #2 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 8/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 8 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*6 Parent #2 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 8/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 8 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 82/118 chromosomes Eco57I- - - DNA PCRdig - - Healthy/Control - - - - - United States African American - - - - 82 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 85/164 cases Eco57I- - - DNA PCRdig - - ? - - - - - United States - - - - - 85 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 9/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 9 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*7 Parent #2 - VUS g.38298203G>C g.38071060G>C 4360C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aklillu 2002 - rs1056836 Germline - 9/150 individuals - - - DNA PCRdig - - Healthy/Control - - - - - Ethiopia - - - - - 9 Johan den Dunnen
-/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*3 Parent #1 - benign g.38298203G>C g.38071060G>C 1294G>C (Val432Leu) - CYP1B1_000003 allele m1 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bailey 1998 - rs1056836 Germline - 96/164 cases Eco57I- - - DNA PCRdig - - ? - - - - - United States - - - - - 96 Johan den Dunnen
?/. 3 c.1294C>G r.1294c>g p.Leu432Val CYP1B1*3 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 reference haplotype CYP1B1*3 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1056836 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 3 c.1294C>G - p.Leu432Val CYP1B1*5 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 reference haplotype CYP1B1*5 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1056836 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 3 c.1294C>G - p.Leu432Val CYP1B1*6 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 reference haplotype CYP1B1*6 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1056836 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 3 c.1294C>G - p.Leu432Val CYP1B1*7 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 reference haplotype CYP1B1*7 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1056836 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 3 c.1294C>G - p.Leu432Val CYP1B1*8 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 reference haplotype CYP1B1*8 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1056836 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 3 c.1294C>G r.(?) p.(Leu432Val) CYP1B1*8 Parent #1 - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Rahman et al., unpublished - rs1056836 Unknown ? - - - - DNA SEQ - - Healthy/Control - - - - ? - - - - - - 1 Johan den Dunnen
?/. 3 c.1294C>G r.(?) p.(Leu432Val) RAVN Paternal (confirmed) - VUS g.38298203G>C g.38071060G>C - - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - ASGD5 - - - - - - - - - - - 1 Elena Semina
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