Full data view for gene CYP21A2

Information The variants shown are described using the NM_000500.7 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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     
?/. 10 c.1360C>T r.(?) p.(Pro454Ser) - Unknown - VUS g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1360C>T r.(?) p.(Pro454Ser) - Parent #1 - pathogenic g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.1360C>T r.(?) p.(Pro454Ser) - Unknown - pathogenic g.32008783C>T g.32041006C>T CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.1):c.955C>T (p.P319S) - CYP21A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.1360C>T r.(?) p.(Pro454Ser) - Parent #1 - pathogenic g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - rs6445 Germline - - - 0 - DNA SEQ - - Healthy/Control - - family analysis M - Germany - - 0 - - 1 Stephanie Kleinle
+/. 10 c.1360C>T r.(?) p.(Pro454Ser) - Parent #1 - pathogenic g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - rs6445 Germline - - - 0 - DNA SEQ - - adrenal hyperplasia - - 2nd mutation p.Val282Leu F - Germany - - 0 - - 1 Stephanie Kleinle
+/. 10 c.1360C>T r.(?) p.(Pro454Ser) - Parent #1 - pathogenic g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - rs6445 Germline - - - 0 - DNA SEQ - - adrenal hyperplasia - - 2nd pathogenic variant p.Val282Leu F - Germany - - 0 - - 1 Stephanie Kleinle
+/. 10 c.1360C>T r.(?) p.(Pro454Ser) - Maternal (confirmed) - pathogenic g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - rs6445 Germline - - - 0 - DNA SEQ - - adrenal hyperplasia - PubMed: Helmberg 1992, PubMed: Haider 2013 [To be checked] - F - Turkey - - 0 - - 1 Stephanie Kleinle
+/. - c.1360C>T r.(?) p.(Pro454Ser) - Unknown - pathogenic g.32008783C>T g.32041006C>T CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.1):c.955C>T (p.P319S) - CYP21A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1360C>T r.(?) p.(Pro454Ser) - Unknown - pathogenic g.32008783C>T g.32041006C>T CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.1):c.955C>T (p.P319S) - CYP21A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1360C>T r.(?) p.(Pro454Ser) - Unknown - pathogenic g.32008783C>T - CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.1):c.955C>T (p.P319S) - CYP21A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query