Full data view for gene CYP17A1

Information The variants shown are described using the NM_000102.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend   How to query  

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-147C>A r.(?) p.(=) - Unknown - likely benign g.104597265G>T g.102837508G>T - - CYP17A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34T>C r.(?) p.(=) - Unknown - benign g.104597152A>G g.102837395A>G - - CYP17A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62G>A r.(?) p.(Arg21Lys) - Unknown - likely benign g.104597057C>T g.102837300C>T CYP17A1(NM_000102.4):c.62G>A (p.(Arg21Lys), p.R21K) - CYP17A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>A r.(?) p.(Arg21Lys) - Unknown - VUS g.104597057C>T - CYP17A1(NM_000102.4):c.62G>A (p.(Arg21Lys), p.R21K) - CYP17A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>A r.(?) p.(Arg21Lys) - Unknown - VUS g.104597057C>T - CYP17A1(NM_000102.4):c.62G>A (p.(Arg21Lys), p.R21K) - CYP17A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134G>A r.(?) p.(Arg45Lys) - Unknown - likely benign g.104596985C>T - CYP17A1(NM_000102.3):c.134G>A (p.R45K) - CYP17A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138C>T r.(?) p.(His46=) - Unknown - benign g.104596981G>A g.102837224G>A - - CYP17A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>T r.(?) p.(Ser65=) - Unknown - benign g.104596924C>A g.102837167C>A - - CYP17A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Val76=) - Unknown - likely benign g.104596891G>A - CYP17A1(NM_000102.4):c.228C>T (p.V76=) - CYP17A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.286C>T r.(?) p.(Arg96Trp) - Unknown - pathogenic g.104596833G>A g.102837076G>A - - CYP17A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.297+5G>C r.spl? p.? - Unknown - likely pathogenic g.104596817C>G - - - CYP17A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.331G>A r.(?) p.(Gly111Ser) - Maternal (confirmed) ACMG likely pathogenic g.104595116C>T g.102835359C>T - - CYP17A1_000032 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat55 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
?/. - c.404T>C r.(?) p.(Phe135Ser) - Unknown - VUS g.104595043A>G - - - CYP17A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.437-1G>C r.spl p.? - Maternal (confirmed) ACMG pathogenic g.104594772C>G g.102835015C>G - - CYP17A1_000031 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat51 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+?/. - c.707T>G r.(?) p.(Val236Gly) - Maternal (confirmed) ACMG likely pathogenic g.104593839A>C g.102834082A>C - - CYP17A1_000030 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat52 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.754G>T r.(?) p.(Glu252Ter) - Paternal (confirmed) ACMG pathogenic g.104592965C>A g.102833208C>A - - CYP17A1_000029 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat53 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
?/. - c.909C>T r.(?) p.(Gly303=) - Unknown - VUS g.104592810G>A g.102833053G>A CYP17A1(NM_000102.3):c.909C>T (p.G303=) - CYP17A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970-18A>G r.(=) p.(=) - Unknown - likely benign g.104592455T>C g.102832698T>C - - CYP17A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.985_987delinsAA r.(?) p.(Tyr329LysfsTer90) - Both (homozygous) ACMG pathogenic g.104592420_104592422delinsTT g.102832663_102832665delinsTT 985_987delTACinsAA - CYP17A1_000028 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat54 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.987C>G r.(?) p.(Tyr329Ter) - Unknown - pathogenic g.104592420G>C g.102832663G>C - - CYP17A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1039C>T r.(?) p.(Arg347Cys) - Unknown - pathogenic g.104592368G>A g.102832611G>A - - CYP17A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1040G>A r.(?) p.(Arg347His) - Parent #1 - pathogenic g.104592367C>T g.102832610C>T - - CYP17A1_000015 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61754278 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.1072C>T r.(?) p.(Arg358*) - Unknown - VUS g.104592335G>A g.102832578G>A - - CYP17A1_000009 - 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.1139+19T>G r.(=) p.(=) - Unknown - benign g.104592249A>C g.102832492A>C - - CYP17A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1174G>T r.(?) p.(Val392Phe) - Unknown - likely pathogenic g.104591334C>A - CYP17A1(NM_000102.4):c.1174G>T (p.V392F) - CYP17A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1187T>C r.(?) p.(Leu396Pro) - Unknown - likely pathogenic g.104591321A>G - - - CYP17A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1226C>G r.(?) p.(Pro409Arg) - Paternal (confirmed) ACMG likely pathogenic g.104591282G>C g.102831525G>C - - CYP17A1_000027 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat52 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.1228del r.(?) p.(Asp410Ilefs*9) - Maternal (confirmed) - pathogenic (recessive) g.104591281del g.102831524del 1228delG - CYP17A1_000016 - PubMed: Chen 2020 - - Germline - - - - - DNA SEQ-NG - - adrenal hyperplasia patient PubMed: Chen 2020 - M - China - - - - - 1 Dai Weiqian
+/. - c.1234T>C r.(?) p.(Phe412Leu) - Unknown - pathogenic g.104591274A>G - - - chr10_006529 - - - rs2493235395 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1243+20C>T r.(=) p.(=) - Unknown - likely benign g.104591245G>A - CYP17A1(NM_000102.4):c.1243+20C>T - CYP17A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1244-18_1244-15dup r.(=) p.(=) - Unknown - likely benign g.104590757_104590760dup - CYP17A1(NM_000102.4):c.1244-18_1244-15dupGCCA - CYP17A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1247G>A r.(?) p.(Arg416His) - Unknown - pathogenic g.104590739C>T - - - CYP17A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1298T>C r.(?) p.(Leu433Ser) - Paternal (confirmed) ACMG likely pathogenic g.104590688A>G g.102830931A>G - - CYP17A1_000026 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat51 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.1304T>C r.(?) p.(Phe435Ser) - Paternal (confirmed) - pathogenic (recessive) g.104590682A>G g.102830925A>G g.4320G>A - CYP17A1_000014 - PubMed: Chen 2020 - - Germline - - - - - DNA SEQ-NG - - adrenal hyperplasia patient PubMed: Chen 2020 - M - China - - - - - 1 Dai Weiqian
+/. - c.1435_1438dup r.(?) p.(Pro480HisfsTer27) - Unknown - pathogenic g.104590549_104590552dup g.102830792_102830795dup CYP17A1(NM_000102.3):c.1435_1438dupATCC (p.P480Hfs*27), CYP17A1(NM_000102.4):c.1435_1438dupATCC (p.P480Hfs*27) - CYP17A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1435_1438dup r.(?) p.(Pro480HisfsTer27) - Unknown - likely pathogenic g.104590549_104590552dup - CYP17A1(NM_000102.3):c.1435_1438dupATCC (p.P480Hfs*27), CYP17A1(NM_000102.4):c.1435_1438dupATCC (p.P480Hfs*27) - CYP17A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1435_1438dup r.(?) p.(Pro480HisfsTer27) - Unknown - pathogenic g.104590549_104590552dup - CYP17A1(NM_000102.3):c.1435_1438dupATCC (p.P480Hfs*27), CYP17A1(NM_000102.4):c.1435_1438dupATCC (p.P480Hfs*27) - CYP17A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1435_1438dup r.(?) p.(Pro480HisfsTer27) - Unknown - pathogenic g.104590549_104590552dup - CYP17A1(NM_000102.3):c.1435_1438dupATCC (p.P480Hfs*27), CYP17A1(NM_000102.4):c.1435_1438dupATCC (p.P480Hfs*27) - CYP17A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1459_1467del r.(?) p.(Asp487_Phe489del) - Maternal (confirmed) ACMG pathogenic g.104590521_104590529del g.102830764_102830772del - - CYP17A1_000025 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - gene panel adrenal hyperplasia Pat53 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.1460_1467del r.(?) p.(Asp487_Phe489del) - Unknown ACMG pathogenic g.104590521_104590529del g.102830764_102830772del - - CYP17A1_000025 - PubMed: Duan 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat55 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.