All variants in the STX1B gene

Information The variants shown are described using the NM_052874.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.-866967_*3820991dup - - - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
?/. - c.46G>A r.(?) p.(Asp16Asn) - VUS g.31012909C>T g.31001588C>T - - STX1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.206-2A>T r.spl? p.? - likely pathogenic g.31012325T>A g.31001004T>A - - STX1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.210del r.(?) p.(Lys71AsnfsTer22) - likely pathogenic g.31012320del g.31000999del - - STX1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.253G>T r.(?) p.(Ala85Ser) - VUS g.31012276C>A g.31000955C>A STX1B(NM_052874.4):c.253G>T (p.A85S) - STX1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.312del r.(?) p.(Leu105Ter) - pathogenic g.31008868del g.30997547del STX1B(NM_052874.4):c.312delG (p.L105*) - STX1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.358T>A r.(?) p.(Ser120Thr) - VUS g.31008377A>T - STX1B(NM_052874.4):c.358T>A (p.S120T) - STX1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.485_486del r.(?) p.(Glu162GlyfsTer17) - likely pathogenic g.31008055_31008056del g.30996734_30996735del STX1B(NM_052874.4):c.485_486delAA (p.E162Gfs*17) - STX1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.611T>C r.(?) p.(Leu204Pro) - VUS g.31004732A>G g.30993411A>G STX1B(NM_052874.3):c.611T>C (p.(Leu204Pro)) - STX1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.733C>T r.(?) p.(Arg245Ter) - likely pathogenic g.31004504G>A g.30993183G>A - - HSD3B7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*4680A>G r.(=) p.(=) - benign g.30999462T>C g.30988141T>C HSD3B7(NM_025193.3):c.1068T>C (p.R356=) - HSD3B7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.*4681C>T r.(=) p.(=) - VUS g.30999461G>A - HSD3B7(NM_025193.3):c.1067G>A (p.R356H) - HSD3B7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*4708A>G r.(=) p.(=) - likely benign g.30999434T>C g.30988113T>C HSD3B7(NM_001142777.1):c.*286T>C (p.(=)) - HSD3B7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*4892C>T r.(=) p.(=) - benign g.30999250G>A g.30987929G>A HSD3B7(NM_025193.3):c.856G>A (p.A286T) - HSD3B7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*5000T>C r.(=) p.(=) - benign g.30999142A>G g.30987821A>G HSD3B7(NM_025193.3):c.748A>G (p.T250A) - HSD3B7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.*5882G>A r.(=) p.(=) - VUS g.30998260C>T g.30986939C>T HSD3B7(NM_025193.3):c.631C>T (p.R211C) - HSD3B7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*6364G>A r.(=) p.(=) - likely benign g.30997778C>T g.30986457C>T HSD3B7(NM_001142777.1):c.357C>T (p.T119=) - HSD3B7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*6364G>A r.(=) p.(=) - likely benign g.30997778C>T - HSD3B7(NM_001142777.1):c.357C>T (p.T119=) - HSD3B7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*6705G>C r.(=) p.(=) - likely benign g.30997437C>G g.30986116C>G HSD3B7(NM_001142777.1):c.234C>G (p.A78=) - HSD3B7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*7091G>T r.(=) p.(=) - VUS g.30997051C>A g.30985730C>A HSD3B7(NM_001142777.1):c.72C>A (p.(His24Gln)) - HSD3B7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*7092T>C r.(=) p.(=) - likely benign g.30997050A>G g.30985729A>G HSD3B7(NM_001142777.1):c.71A>G (p.(His24Arg)) - HSD3B7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.*7117_*7118del r.(=) p.(=) - pathogenic g.30997024_30997025del g.30985703_30985704del HSD3B7(NM_001142777.1):c.45_46delAG (p.G17Lfs*26) - HSD3B7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.*7127G>T r.(=) p.(=) - pathogenic g.30997015C>A - HSD3B7(NM_001142777.2):c.36C>A (p.Y12*) - HSD3B7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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