All variants in the STXBP5L gene

Information The variants shown are described using the NM_014980.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.9G>A r.(?) p.(Lys3=) - likely benign g.120628434G>A g.120909587G>A STXBP5L(NM_014980.2):c.9G>A (p.K3=) - STXBP5L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.170A>G r.(?) p.(Glu57Gly) - VUS g.120628595A>G - STXBP5L(NM_001308330.2):c.170A>G (p.(Glu57Gly)) - STXBP5L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1703C>G r.(?) p.(Thr568Ser) - benign g.120976051C>G g.121257204C>G - - STXBP5L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2563G>A r.(?) p.(Val855Ile) - benign g.121100283G>A g.121381436G>A - - STXBP5L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 25 c.3127G>A r.(?) p.(Val1043Ile) - VUS (!) g.121132111G>A g.121413264G>A - - STXBP5L_000001 original classification changed in Kumar 2022 PubMed: Kumar 2015, PubMed: Kumar 2015, PubMed: Kumar 2022 - - Germline yes - - - - Johan den Dunnen
+/. 25 c.3127G>A r.(?) p.Val1043Ile - NA g.121132111G>A g.121413264G>A - - STXBP5L_000001 cDNA expression cloning in rat PC12 cells SNARE-dependent human growth hormone secretion assay shows enhanced inhibition of K+ stimulated exocytosis, calcium-dependent exocytosis reduced to 0.42 PubMed: Kumar 2015, PubMed: Kumar 2015 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 14 c.3127G>A r.(?) p.Val1043Ile - NA g.121132111G>A g.121413264G>A - - STXBP5L_000001 cDNA overexpression cloning in mouse E18.5 primary hippocampal neurons promotes significant axonal outgrowth PubMed: Kumar 2015, PubMed: Kumar 2015 - - In vitro (cloned) - - - - - Johan den Dunnen
-/. - c.*32C>T r.(=) p.(=) - benign g.121137976C>T g.121419129C>T - - STXBP5L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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