Full data view for gene CYP19A1

Information The variants shown are described using the NM_000103.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-39+2T>C r.spl? p.? - Unknown - VUS g.51630690A>G g.51338493A>G - - CYP19A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32A>G r.(?) p.(Tyr11Cys) - Unknown - VUS g.51535078T>C - CYP19A1(NM_000103.3):c.32A>G (p.(Tyr11Cys)) - CYP19A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.49G>A r.(?) p.(Val17Met) - Unknown - VUS g.51535061C>T - CYP19A1(NM_000103.4):c.49G>A (p.(Val17Met)) - CYP19A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115T>C r.(?) p.(Trp39Arg) - Unknown - benign g.51534995A>G g.51242798A>G CYP19A1(NM_000103.3):c.115T>C (p.(Trp39Arg)), CYP19A1(NM_031226.2):c.115T>C (p.W39R) - CYP19A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115T>C r.(?) p.(Trp39Arg) - Parent #1 - likely benign g.51534995A>G g.51242798A>G - - CYP19A1_000007 16 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2236722 Germline - 16/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-?/. - c.115T>C r.(?) p.(Trp39Arg) - Both (homozygous) - likely benign g.51534995A>G g.51242798A>G - - CYP19A1_000007 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2236722 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.115T>C r.(?) p.(Trp39Arg) - Unknown - VUS g.51534995A>G - CYP19A1(NM_000103.3):c.115T>C (p.(Trp39Arg)), CYP19A1(NM_031226.2):c.115T>C (p.W39R) - CYP19A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.240A>G r.(?) p.(Val80=) - Unknown - benign g.51529112T>C g.51236915T>C CYP19A1(NM_031226.3):c.240A>G (p.V80=) - CYP19A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.240A>G r.(?) p.(Val80=) - Unknown - benign g.51529112T>C g.51236915T>C CYP19A1(NM_031226.3):c.240A>G (p.V80=) - CYP19A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.242A>G r.(?) p.(Tyr81Cys) - Unknown - likely pathogenic g.51529110T>C - CYP19A1(NM_000103.4):c.242A>G (p.(Tyr81Cys)) - CYP19A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>T r.(?) p.(Pro155=) - Unknown - likely benign g.51514709G>A g.51222512G>A CYP19A1(NM_000103.4):c.465C>T (p.(Pro155=)) - CYP19A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>T r.(?) p.(Pro155=) - Unknown - likely benign g.51514709G>A - CYP19A1(NM_000103.4):c.465C>T (p.(Pro155=)) - CYP19A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602C>T r.(?) p.(Thr201Met) - Unknown - benign g.51514572G>A g.51222375G>A CYP19A1(NM_000103.3):c.602C>T (p.(Thr201Met)), CYP19A1(NM_031226.3):c.602C>T (p.T201M) - CYP19A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602C>T r.(?) p.(Thr201Met) - Unknown - benign g.51514572G>A g.51222375G>A CYP19A1(NM_000103.3):c.602C>T (p.(Thr201Met)), CYP19A1(NM_031226.3):c.602C>T (p.T201M) - CYP19A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602C>T r.(?) p.(Thr201Met) - Unknown - benign g.51514572G>A g.51222375G>A CYP19A1(NM_000103.3):c.602C>T (p.(Thr201Met)), CYP19A1(NM_031226.3):c.602C>T (p.T201M) - CYP19A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602C>T r.(?) p.(Thr201Met) - Parent #1 - likely benign g.51514572G>A g.51222375G>A - - CYP19A1_000006 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28757184 Germline - 20/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 20 Mohammed Faruq
+/. - c.628G>A r.(?) p.(Glu210Lys) - Unknown - pathogenic g.51514546C>T g.51222349C>T - - CYP19A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.628G>A r.(?) p.(Glu210Lys) - Parent #1 - pathogenic g.51514546C>T g.51222349C>T - - CYP19A1_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434538 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.629-16T>G r.(=) p.(=) - Unknown - benign g.51510868A>C g.51218671A>C CYP19A1(NM_031226.3):c.629-16T>G - CYP19A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.629-16T>G r.(=) p.(=) - Unknown - benign g.51510868A>C g.51218671A>C CYP19A1(NM_031226.3):c.629-16T>G - CYP19A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.630A>T r.(?) p.(Glu210Asp) - Unknown - VUS g.51510851T>A - CYP19A1(NM_000103.3):c.630A>T (p.(Glu210Asp)) - CYP19A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693A>C r.(?) p.(Pro231=) - Unknown - likely benign g.51510788T>G - CYP19A1(NM_001347249.1):c.693A>C (p.P231=) - CYP19A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721T>A r.(?) p.(Tyr241Asn) - Unknown - VUS g.51510760A>T g.51218563A>T CYP19A1(NM_031226.2):c.721T>A (p.Y241N) - CYP19A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824G>A r.(?) p.(Cys275Tyr) - Unknown - VUS g.51507934C>T - CYP19A1(NM_000103.4):c.824G>A (p.(Cys275Tyr)) - CYP19A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.976C>T r.(?) p.(Pro326Ser) - Unknown - likely benign g.51507312G>A - CYP19A1(NM_001347249.1):c.976C>T (p.P326S) - CYP19A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1058dup r.(?) p.(Leu353Phefs*10) - Unknown - VUS g.51504723dup g.51212526dup 1058dupT - CYP19A1_000013 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.1150G>A r.(?) p.(Asp384Asn) - Unknown - VUS g.51504630C>T - CYP19A1(NM_000103.4):c.1150G>A (p.(Asp384Asn)) - CYP19A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1264-628A>T r.(=) p.(=) - Unknown - benign g.51503881T>A g.51211684T>A CYP19A1(NM_031226.3):c.1264-628A>T - CYP19A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1369C>T r.(?) p.(Arg457Ter) - Unknown - likely pathogenic g.51503148G>A g.51210951G>A - - CYP19A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474T>G r.(?) p.(Phe492Val) - Unknown - VUS g.51503043A>C g.51210846A>C CYP19A1(NM_031226.2):c.1474T>G (p.F492V) - CYP19A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19C>T r.(=) p.(=) - Unknown - benign g.51502986G>A g.51210789G>A CYP19A1(NM_031226.3):c.*19C>T - CYP19A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19C>T r.(=) p.(=) - Unknown - benign g.51502986G>A g.51210789G>A CYP19A1(NM_031226.3):c.*19C>T - CYP19A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*161T>G r.(=) p.(=) - Unknown - benign g.51502844A>C g.51210647A>C CYP19A1(NM_031226.3):c.*161T>G - CYP19A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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