Full data view for gene CYP11A1

Information The variants shown are described using the NM_000781.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

Reference     

Remarks     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.106G>A r.(?) p.(Glu36Lys) - Unknown - likely benign g.74659821C>T g.74367480C>T CYP11A1(NM_000781.2):c.106G>A (p.E36K) - CYP11A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149A>G r.(?) p.(Glu50Gly) - Unknown - VUS g.74659778T>C g.74367437T>C CYP11A1(NM_000781.2):c.149A>G (p.E50G) - CYP11A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235G>A r.(?) p.(Val79Ile) - Unknown - likely benign g.74659692C>T g.74367351C>T CYP11A1(NM_000781.2):c.235G>A (p.V79I) - CYP11A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366C>T r.(?) p.(Leu122=) - Unknown - likely benign g.74640300G>A g.74347959G>A CYP11A1(NM_000781.2):c.366C>T (p.L122=) - CYP11A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426-47G>A r.(=) p.(=) - Unknown - benign g.74637631C>T g.74345290C>T CYP11A1(NM_001099773.1):c.-49-47G>A - CYP11A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>T r.(?) p.(Arg185=) - Unknown - likely benign g.74637455G>A - CYP11A1(NM_001099773.1):c.81C>T (p.A27=) - CYP11A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.835del r.(?) p.(Ile279Tyrfs*10) - Unknown - VUS g.74635473del g.74343132del 835delA - CYP11A1_000006 - PubMed: Lhota 2016 - - Germline - - - 0 - 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 - - 0 - - 1 Zdenek Kleibl
-/. - c.939C>T r.(?) p.(Phe313=) - Unknown - benign g.74635369G>A g.74343028G>A - - CYP11A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.939C>T r.(=) p.(=) - Parent #1 - likely benign g.74635369G>A g.74343028G>A - - CYP11A1_000005 30 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4986873 Germline - 30/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 30 Mohammed Faruq
-?/. - c.939C>T r.(=) p.(=) - Both (homozygous) - likely benign g.74635369G>A g.74343028G>A - - CYP11A1_000005 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4986873 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.940G>A r.(?) p.(Glu314Lys) - Unknown - VUS g.74635368C>T g.74343027C>T CYP11A1(NM_001099773.1):c.466G>A (p.G156R) - CYP11A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1076C>T r.(?) p.(Ala359Val) - Parent #1 - pathogenic g.74632009G>A g.74339668G>A - - CYP11A1_000011 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121912812 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1402G>A r.(?) p.(Ala468Thr) - Unknown - VUS g.74630944C>T g.74338603C>T CYP11A1(NM_000781.2):c.1402G>A - CYP11A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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