Full data view for gene CYP27A1

Information The variants shown are described using the NM_000784.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - likely benign g.219678877C>T g.218814154C>T CYP27A1(NM_000784.3):c.1151C>T (p.P384L, p.(Pro384Leu)), CYP27A1(NM_000784.4):c.1151C>T (p.P384L) - CYP27A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - likely benign g.219678877C>T g.218814154C>T CYP27A1(NM_000784.3):c.1151C>T (p.P384L, p.(Pro384Leu)), CYP27A1(NM_000784.4):c.1151C>T (p.P384L) - CYP27A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - likely benign g.219678877C>T g.218814154C>T CYP27A1(NM_000784.3):c.1151C>T (p.P384L, p.(Pro384Leu)), CYP27A1(NM_000784.4):c.1151C>T (p.P384L) - CYP27A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1151C>T r.(?) p.(Pro384Leu) - Both (homozygous) - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - rs41272687 Unknown - - - 0 - ? ? - - CTX - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 6 c.1151C>T r.(?) p.(Pro384Leu) - Parent #1 - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - - Unknown - - - 0 - ? ? - - CTX - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 6 c.1151C>T r.(?) p.(Pro384Leu) - Parent #1 - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - rs41272687 Unknown - - - 0 - ? ? - - CTX - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
?/? 6 c.1151C>T r.(?) p.(Pro384Leu) - Parent #1 - VUS g.219678877C>T g.218814154C>T - - CYP27A1_000002 - - - rs41272687 Unknown - - - 0 - ? ? - - CTX - PubMed: Verrips 2000 - - - - - - 0 - - 1 Jorge Amigo Lechuga
-?/. - c.1151C>T r.(?) p.(Pro384Leu) - Parent #1 - likely benign g.219678877C>T g.218814154C>T - - CYP27A1_000002 131 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41272687 Germline - 131/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 131 Mohammed Faruq
-?/. - c.1151C>T r.(?) p.(Pro384Leu) - Both (homozygous) - likely benign g.219678877C>T g.218814154C>T - - CYP27A1_000002 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41272687 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.1151C>T r.(?) p.(Pro384Leu) - Unknown - likely benign g.219678877C>T - CYP27A1(NM_000784.3):c.1151C>T (p.P384L, p.(Pro384Leu)), CYP27A1(NM_000784.4):c.1151C>T (p.P384L) - CYP27A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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