Full data view for gene CYP21A2

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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Allele     

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     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - ?, HD - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 7 c.806G>C - r.(?) p.(Ser269Thr) - Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.806G>C - r.(?) p.(Ser269Thr) - Parent #1 g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - rs6472 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.806G>C likely benign r.(?) p.(Ser269Thr) - Unknown g.32007849G>C - CYP21A2(NM_000500.8):c.806G>C (p.S269T) - CYP21A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.806G>C benign r.(?) p.(Ser269Thr) - Unknown g.32007849G>C - CYP21A2(NM_000500.8):c.806G>C (p.S269T) - CYP21A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 7 c.806G>C benign r.(?) p.(Ser269Thr) - Unknown g.32007849G>C - - - CYP21A2_000001 - - - rs6472 Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Stephanie Kleinle
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