Unique variants in gene STX1B

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

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Effect     

Reported     

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     
./. 1 - c.-866967_*3820991dup - - - g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/. 1 - c.46G>A VUS r.(?) p.(Asp16Asn) g.31012909C>T - - - STX1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.206-2A>T likely pathogenic r.spl? p.? g.31012325T>A - - - STX1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.210del likely pathogenic r.(?) p.(Lys71Asnfs*22) g.31012320del - - - STX1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.253G>T VUS r.(?) p.(Ala85Ser) g.31012276C>A - STX1B(NM_052874.4):c.253G>T (p.A85S) - STX1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.485_486del likely pathogenic r.(?) p.(Glu162Glyfs*17) g.31008055_31008056del - STX1B(NM_052874.4):c.485_486delAA (p.E162Gfs*17) - STX1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.611T>C VUS r.(?) p.(Leu204Pro) g.31004732A>G - STX1B(NM_052874.3):c.611T>C (p.(Leu204Pro)) - STX1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.733C>T likely pathogenic r.(?) p.(Arg245*) g.31004504G>A - - - HSD3B7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*4680A>G benign r.(=) p.(=) g.30999462T>C - HSD3B7(NM_025193.3):c.1068T>C (p.R356=) - HSD3B7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4708A>G likely benign r.(=) p.(=) g.30999434T>C - HSD3B7(NM_001142777.1):c.*286T>C (p.(=)) - HSD3B7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*4892C>T benign r.(=) p.(=) g.30999250G>A - HSD3B7(NM_025193.3):c.856G>A (p.A286T) - HSD3B7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*5000T>C benign r.(=) p.(=) g.30999142A>G - HSD3B7(NM_025193.3):c.748A>G (p.T250A) - HSD3B7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*6364G>A likely benign r.(=) p.(=) g.30997778C>T - HSD3B7(NM_001142777.1):c.357C>T (p.T119=) - HSD3B7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*7091G>T VUS r.(=) p.(=) g.30997051C>A - HSD3B7(NM_001142777.1):c.72C>A (p.(His24Gln)) - HSD3B7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*7092T>C likely benign r.(=) p.(=) g.30997050A>G - HSD3B7(NM_001142777.1):c.71A>G (p.(His24Arg)) - HSD3B7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*7117_*7118del pathogenic r.(=) p.(=) g.30997024_30997025del - HSD3B7(NM_001142777.1):c.45_46delAG (p.G17Lfs*26) - HSD3B7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend