All transcript variants in gene PDYN

Information The variants shown are described using the NM_024411.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/. 4 c.658_659del - r.(?) p.(Trp220Glyfs*33) g.1961075_1961076del g.1980429_1980430del 658_659delTG - PDYN_000002 - - - - Germline - - - 0 - Claire Guissart
?/. - c.658_659del VUS r.(?) p.(Trp220Glyfs*33) g.1961076_1961077del - PDYN(NM_024411.4):c.658_659delTG (p.W220Gfs*33) - PDYN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.658_659del ACMG: 3 r.(?) p.Trp220Glyfs*33 g.1961075_1961076del - - - PDYN_000002 reported in Jezierska ; 2013. J Neurol 260: 1807-12 - - rs748307861 Germline - - - 0 - Andreas Laner
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