Unique variants in the CHRNA5 gene

Information The variants shown are described using the NM_000745.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

Effect     

Reported     

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     
-?/. 1 - c.598A>G r.(?) p.(Ile200Val) - likely benign g.78882331A>G - CHRNA5(NM_000745.3):c.598A>G (p.I200V) - CHRNA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*8192G>A r.(=) p.(=) - benign g.78893787G>A - CHRNA3(NM_000743.5):c.1197C>T (p.D399=) - CHRNA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*8226G>A r.(=) p.(=) - VUS g.78893821G>A - CHRNA3(NM_000743.5):c.1163C>T (p.(Ser388Phe)) - CHRNA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*8236G>A r.(=) p.(=) - VUS g.78893831G>A g.78601489G>A - - CHRNA3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*8430A>G r.(=) p.(=) - VUS g.78894025A>G - CHRNA3(NM_000743.5):c.959T>C (p.(Val320Ala)) - CHRNA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.*8547_*8548del r.(=) p.(=) - likely pathogenic g.78894142_78894143del - CHRNA3(NM_000743.5):c.844_845del (p.(Ser282Profs*10)) - CHRNA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*8674G>A r.(=) p.(=) - VUS g.78894269G>A - CHRNA3(NM_000743.4):c.715C>T (p.(Arg239Cys)) - CHRNA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*8740G>A r.(=) p.(=) - VUS g.78894335G>A - CHRNA3(NM_000743.5):c.649C>T (p.H217Y) - CHRNA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*8762G>C r.(=) p.(=) - VUS g.78894357G>C - CHRNA3(NM_000743.5):c.627C>G (p.(Ile209Met)) - CHRNA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*8811C>T r.(=) p.(=) - VUS g.78894406C>T - CHRNA3(NM_000743.5):c.578G>A (p.(Gly193Asp)) - CHRNA3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*23819C>T r.(=) p.(=) - VUS g.78909414C>T - CHRNA3(NM_000743.5):c.329G>A (p.(Arg110His)) - CHRNA3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*25422T>C r.(=) p.(=) - likely benign g.78911017T>C - CHRNA3(NM_000743.5):c.223-14A>G - CHRNA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*27489_*27494del r.(=) p.(=) - likely benign g.78913084_78913089del - CHRNA3(NM_000743.5):c.64_69delCTGCTG (p.L22_L23del) - CHRNA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*27489_*27494dup r.(=) p.(=) - VUS g.78913084_78913089dup - CHRNA3(NM_000743.5):c.64_69dup (p.(Leu22_Leu23dup)) - CHRNA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*27492_*27494dup r.(=) p.(=) - likely benign g.78913087_78913089dup - CHRNA3(NM_000743.5):c.67_69dupCTG (p.L23dup) - CHRNA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.