Unique variants in the CHRNA1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001039523.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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     
+/. 2 ? c.? r.(?) p.(?) - pathogenic g.? - - - CHRNA1_000000 - PubMed: Giraud 2007, PubMed: Masuda 2008 - - Germline - - - - - Johan den Dunnen
-/. 9 1i c.43+59G>T r.(?) p.(=) - benign g.175629021C>A g.174764293C>A -18+59T, IVS1+59G>T - CHRNA1_000026 control chromosomes, reported 11/28 in 1997 PubMed: Ohno 1997, PubMed: Ohno 1997, PubMed: Ohno 1999, PubMed: Ohno 1999 - - Germline - 37/86 MspI- - - Johan den Dunnen
+/. 3 2 c.117_133dup r.(?) p.(His25Argfs*19) - pathogenic g.175624272_175624288dup g.174759544_174759560dup - - CHRNA1_000011 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.119G>A r.(?) p.(Arg40Gln) - likely pathogenic g.175624286C>T g.174759558C>T - - CHRNA1_000077 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - Johan den Dunnen
-/. 1 2 c.120G>A r.(?) p.(=) - benign g.175624285C>T g.174759557C>T G57A - CHRNA1_000027 - PubMed: Ohno 1996 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.144C>T r.(?) p.(Val48=) - likely benign g.175624261G>A g.174759533G>A CHRNA1(NM_001039523.2):c.144C>T (p.V48=) - CHRNA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 2i c.190-5del r.spl? p.? - benign g.175624116del g.174759388del 190-5delT, CHRNA1(NM_001039523.3):c.190-5delT - CHRNA1_000054, CHRNA1_000057 VKGL data sharing initiative Nederland - - rs34695580 CLASSIFICATION record, Unknown ? 0.5 controls - - - VKGL-NL_Groningen, Florian Erger
-/. 12 2i c.190-5dup r.(?), r.= p.(=), p.= - benign g.175624116dup g.174759388dup 130-13insT, IVS2-13insT - CHRNA1_000024 control chromosomes, control chromosomes, reported 29/70 in 1997 PubMed: Engel 1996, PubMed: Ohno 1996, PubMed: Ohno 1997, PubMed: Ohno 1997, PubMed: Ohno 1999, 1 more item - - Germline - 27/66, 57/130 MspI- - - Johan den Dunnen
-?/. 1 - c.190-5T>C r.spl? p.? - likely benign g.175624108A>G g.174759380A>G CHRNA1(NM_001039523.3):c.190-5T>C - CHRNA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.199A>T r.(?) p.(Asn67Tyr) - VUS g.175624094T>A g.174759366T>A - - CHRNA1_000042 Alamut-HumVar:0,95 (prob. Pathogenic); found in homozygeous state - - - Germline - - - - - Andreas Laner
?/. 2 - c.224G>A r.(?) p.(Arg75His) - VUS g.175624069C>T g.174759341C>T CHRNA1(NM_001039523.2):c.224G>A (p.R75H) - CHRNA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+?/. 2 - c.257G>A r.(?) p.(Arg86His) - likely pathogenic g.175622726C>T g.174757998C>T - - CHRNA1_000076 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.280G>A r.(?) p.(Val94Ile) - likely benign g.175622703C>T g.174757975C>T CHRNA1(NM_001039523.2):c.280G>A (p.(Val94Ile)) - CHRNA1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 ? c.280G>T r.(?) p.(G94C) - pathogenic g.175622703C>A g.174757975C>A - - CHRNA1_000015 - - - - Germline - - - - - Johan den Dunnen
-/. 1 - c.309+88G>A r.(=) p.(=) - benign g.175622586C>T g.174757858C>T - - CHRNA1_000041 - - - rs114403674 Germline - - - - - Andreas Laner
+/., +?/. 3 - c.392G>A r.(?) p.(Trp131Ter) - likely pathogenic, pathogenic g.175622321C>T g.174757593C>T CHRNA1(NM_001039523.2):c.392G>A (p.W131*) - CHRNA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.439A>G r.(?) p.(Ile147Val) - VUS g.175619123T>C g.174754395T>C - - CHRNA1_000043 Polyphen-2: possibly damaging - - - Germline - - - - - Andreas Laner
+/. 1 ? c.441del r.(?) p.(?) - pathogenic g.175619122del g.174754394del 441delC - CHRNA1_000016 - - - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.454G>C r.(?) p.(V152L) - pathogenic g.175619108C>G - - - CHRNA1_000017 1 more item - - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.518dup r.(?) p.(?) - pathogenic g.175619044dup g.174754316dup 518dupG - CHRNA1_000018 - - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.529G>A r.(?) p.(Val177Ile) - VUS g.175619033C>T g.174754305C>T - - CHRNA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 8 6 c.592G>A r.(?), r.592g>a p.(Gly198Ser), p.Gly198Ser - NA, pathogenic g.175618970C>T g.174754242C>T 457G>A (Gly153Ser), G153S, G457A (G153S), Gly183Ser - CHRNA1_000001 expression cloning human cDNA in Xenopus oocytes 6x prolonged burst duration, 3 more items PubMed: Croxen 1997, PubMed: Sine 1995, PubMed: Sine 1995, PubMed: Croxen 1997 - - Germline, In vitro (cloned) - - AluI+ - - Johan den Dunnen, Angela Abicht
+/., +?/. 2 6 c.601G>A r.(?), r.601g>a p.Val201Met - NA, pathogenic g.175618961C>T g.174754233C>T 466G>A (V156M), V156M - CHRNA1_000003 expression cloning human cDNA in Xenopus oocytes 3x prolonged burst duration, 1 more item PubMed: Croxen 1997 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
-?/. 1 - c.615+4G>C r.spl? p.? - likely benign g.175618943C>G g.174754215C>G CHRNA1(NM_000079.3):c.540+4G>C (p.?) - CHRNA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.703T>C r.(?) p.(Tyr235His) - VUS g.175618381A>G g.174753653A>G - - CHRNA1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 ? c.737C>A r.(?) p.(S246Y) - pathogenic g.175618347G>T - - - CHRNA1_000019 1 more item - - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.737C>T r.(?) p.(S246F) - pathogenic g.175618347G>A - - - CHRNA1_000020 1 more item - - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.757T>G r.(?) p.(F253V) - pathogenic g.175618327A>C - - - CHRNA1_000007 1 more item PubMed: Wang 1999 - - Germline - - - - - Johan den Dunnen
+/. 3 6 c.761G>T r.(?) p.(Arg254Leu) - pathogenic g.175618323C>A g.174753595C>A (R234L) - CHRNA1_000012 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.786C>A r.(?) p.(Asn262Lys) - pathogenic g.175618298G>T g.174753570G>T - - CHRNA1_000028 - - - - Germline - - - - - Tom Winder
+/. 2 7 c.786C>G r.(?) p.(Asn262Lys), p.Asn262Lys - NA, pathogenic g.175618298G>C g.174753570G>C C651G (N217K) - CHRNA1_000002 not in 102 CMS/200 control chromosomes, segregates with disease, 1 more item PubMed: Engel 1996 - - Germline, In vitro (cloned) - - HincII- - - Johan den Dunnen
+/. 1 ? c.805G>T r.(?) p.(V269F) - pathogenic g.175618279C>A - - - CHRNA1_000006 1 more item PubMed: Milone 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.826T>C r.(?) p.(F276L) - pathogenic g.175618258A>G - - - CHRNA1_000009 1 more item PubMed: Beeson 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.851C>A r.(?) p.(Ser284Ter) - pathogenic g.175618233G>T g.174753505G>T - - CHRNA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.854-14_854-12del r.(=) p.(=) - benign g.175614923_175614925del g.174750195_174750197del 854-14_854-12delTTT, CHRNA1(NM_001039523.3):c.854-14_854-12delTTT - CHRNA1_000048 VKGL data sharing initiative Nederland - - rs773734065 CLASSIFICATION record, Unknown ? 0.3 controls - - - VKGL-NL_Utrecht, Florian Erger
-/. 3 - c.854-13_854-12del r.(=) p.(=) - benign g.175614924_175614925del g.174750196_174750197del 854-13_854-12delTT, 1 more item - CHRNA1_000047 VKGL data sharing initiative Nederland - - rs139930312 CLASSIFICATION record, Unknown ? 0.5 controls - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Florian Erger
-/. 2 - c.854-12del r.(=) p.(=) - benign g.175614925del g.174750197del CHRNA1(NM_000079.3):c.779-14del (p.(=)), CHRNA1(NM_001039523.3):c.854-12delT - CHRNA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.854-8C>T r.(=) p.(=) - likely benign g.175614905G>A g.174750177G>A CHRNA1(NM_000079.3):c.779-8C>T (p.(=)) - CHRNA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.854-3C>T r.spl? p.? - likely benign g.175614900G>A g.174750172G>A CHRNA1(NM_000079.3):c.779-3C>T (p.?) - CHRNA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.863T>C r.(?) p.(Met288Thr) - VUS g.175614888A>G g.174750160A>G - - CHRNA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 8 c.866C>A r.(?) p.(Thr289Asn) - likely pathogenic g.175614885G>T g.174750157G>T Thr274Asn - CHRNA1_000022 no functional studies done to confirm predicted kinetic consequence - - - Germline - - - - - Angela Abicht
+/. 2 8 c.896C>T r.(?), r.821c>u p.Thr299Ile - NA, pathogenic g.175614855G>A g.174750127G>A 761C>T (T254I), T254I - CHRNA1_000004 expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration, 1 more item PubMed: Croxen 1997 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 ? c.913G>A r.(?) p.(V305I) - pathogenic g.175614838C>T - - - CHRNA1_000008 1 more item PubMed: Wang 1999 - - Germline - - - - - Johan den Dunnen
+/., ?/. 3 8 c.941G>T r.(?), r.941g>u p.(Ser314Ile), p.Ser314Ile - NA, pathogenic, VUS g.175614810C>A g.174750082C>A 806G>T (S269I), S269I - CHRNA1_000005 expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration, 2 more items PubMed: Croxen 1997 - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 ? c.946A>C r.(?) p.(Ile316Leu) - pathogenic g.175614805T>G - - - CHRNA1_000021 1 more item - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.959G>C r.(?) p.(Gly320Ala) - VUS g.175614792C>G - CHRNA1(NM_001039523.2):c.959G>C (p.G320A) - CHRNA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 8 c.977C>A r.(?) p.(Thr326Asn) - likely pathogenic g.175614774G>T g.174750046G>T Thr311Asn - CHRNA1_000023 no functional studies done to confirm predicted kinetic consequence - - - Germline - - - - - Angela Abicht
+/. 1 ? c.997C>T r.(?) p.(R333W) - pathogenic g.175614754G>A - - - CHRNA1_000013 1 more item PubMed: Masuda 2008 - - Germline - - - - - Johan den Dunnen
-/. 3 8 c.1035C>T r.(?), r.= p.(His345=), p.= - benign g.175614716G>A g.174749988G>A C900T - CHRNA1_000025, CHRNA1_000056 control chromosomes, VKGL data sharing initiative Nederland PubMed: Engel 1996 - - CLASSIFICATION record, Germline - 13/278 - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.1043C>T r.(?) p.(Pro348Leu) - VUS g.175614708G>A g.174749980G>A - - CHRNA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1063G>T r.? p.Glu355* - likely pathogenic g.175614688C>A - - - CHRNA1_000074 - - - - Unknown - - - - - Sha Hong
-?/. 1 - c.1078-8T>C r.(=) p.(=) - likely benign g.175613555A>G g.174748827A>G CHRNA1(NM_000079.3):c.1003-8T>C (p.(=)) - CHRNA1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 ? c.1264G>T r.(?) p.(V422F) - pathogenic g.175613361C>A g.174748633C>A - - CHRNA1_000014 - - - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1299A>G r.(?) p.(Ser433=) - likely benign g.175613326T>C - CHRNA1(NM_001039523.3):c.1299A>G (p.S433=) - CHRNA1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 ? c.1314C>G r.(?) p.(C438W) - pathogenic g.175613311G>C g.174748583G>C - - CHRNA1_000010 - PubMed: Shen 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1318-76T>G r.(=) p.(=) - benign g.175613059A>C g.174748331A>C - - CHRNA1_000044 - - - rs3816448 Germline - - - - - Andreas Laner
-?/. 1 - c.1368C>T r.(?) p.(Leu456=) - likely benign g.175612933G>A - CHRNA1(NM_001039523.3):c.1368C>T (p.L456=) - CHRNA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1396G>A r.(?) p.(Gly466Arg) - likely pathogenic g.175612905C>T - - - CHRNA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1403T>C r.(?) p.(Leu468Pro) - VUS g.175612898A>G g.174748170A>G - - CHRNA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1408G>A r.(?) p.(Val470Met) - VUS g.175612893C>T g.174748165C>T - - CHRNA1_000073 - PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.*461A>T r.(=) p.(=) - VUS g.175612391T>A g.174747663T>A - - CHRNA1_000045 - - - - Germline - - - - - Andreas Laner
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