All variants in the STX16 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.132+15G>A r.(=) p.(=) - benign g.57227209G>A g.58652153G>A STX16(NM_001001433.2):c.132+15G>A - STX16_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.443G>A r.(?) p.(Arg148Gln) - benign g.57244396G>A g.58669340G>A STX16(NM_001001433.2):c.443G>A (p.R148Q) - NPEPL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.557-7G>C r.(=) p.(=) - benign g.57245561G>C g.58670505G>C STX16(NM_001001433.2):c.557-7G>C - STX16_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*39000C>A r.(=) p.(=) - benign g.57290347C>A g.58715291C>A NPEPL1(NM_024663.4):c.1537C>A (p.L513M) - NPEPL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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