Full data view for gene HSD3B2

Information The variants shown are described using the NM_000197.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Template     

Technique     

Disease     

Reference     

Remarks     

Gender     

Age     

α-thal genotype     

β-thal genotype     

Panel size     

Owner     
./. 04 c.614T>C - p.Leu205Pro Unknown Substitution - GenBank HSD3B2_00008 - blood - - - - - - - - - - - -
./. 04 c.614T>C - p.Leu205Pro Unknown Substitution - GenBank HSD3B2_00008 - peripheral tissue - - - - - - - - - - - -
./. 04 c.707T>C - p.Leu236Ser Unknown Substitution - GenBank HSD3B2_00008 - peripheral tissue - - - - - - - - - - - -
./. 04 c.707T>C - p.Leu236Ser Unknown Substitution - GenBank HSD3B2_00008 - blood - - - - - - - - - - - -
./. 04 c.707T>C - p.Leu236Ser Unknown Substitution - GenBank HSD3B2_00008 C=0.014/13 unknown - - - - - - - - - - - -
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