Variants

TRDN variants

Predicted effect: Splice site or region. 2 of the 8 TRDN variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

All8
Frameshift3
Nonsense (stop gained)2
Splice site or region2
Other1

Variant	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
c.391+1G>A	Intron 3	123,548,453	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.550+1_550+2insA	Intron 6	123,516,139	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts