Full data view for gene CHRNA1

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.

108 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. ? c.? r.(?) p.(?) Unknown - pathogenic g.? - - - CHRNA1_000000 - PubMed: Giraud 2007 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Giraud 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. ? c.? r.(?) p.(?) Unknown - pathogenic g.? - - - CHRNA1_000000 - PubMed: Masuda 2008 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Masuda 2008 - - - - - - 0 - - 1 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Unknown - benign g.175629021C>A g.174764293C>A -18+59T - CHRNA1_000026 - PubMed: Ohno 1997 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - 0 - - 2 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Paternal (inferred) - benign g.175629021C>A g.174764293C>A -18+59T - CHRNA1_000026 - PubMed: Ohno 1997 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - 0 - - 2 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Maternal (inferred) - benign g.175629021C>A g.174764293C>A -18+59T - CHRNA1_000026 - PubMed: Ohno 1997 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - 0 - - 2 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Paternal (confirmed) - benign g.175629021C>A g.174764293C>A IVS1+59G>T - CHRNA1_000026 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y 0 - - 1 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Maternal (confirmed) - benign g.175629021C>A g.174764293C>A IVS1+59G>T - CHRNA1_000026 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y 0 - - 1 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Paternal (confirmed) - benign g.175629021C>A g.174764293C>A IVS1+59G>T - CHRNA1_000026 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y 0 - - 1 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Maternal (confirmed) - benign g.175629021C>A g.174764293C>A IVS1+59G>T - CHRNA1_000026 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y 0 - - 1 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Maternal (confirmed) - benign g.175629021C>A g.174764293C>A IVS1+59G>T - CHRNA1_000026 - PubMed: Ohno 1999 - - Germline - - MspI- 0 - DNA SEQ - - - - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - 0 - - 3 Johan den Dunnen
-/. 1i c.43+59G>T r.(?) p.(=) Unknown - benign g.175629021C>A g.174764293C>A IVS1+59G>T - CHRNA1_000026 control chromosomes, reported 11/28 in 1997 PubMed: Ohno 1997, PubMed: Ohno 1999 - - Germline - 37/86 - 0 - DNA SEQ - - - - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - 0 - - 37 Johan den Dunnen
+/. 2 c.117_133dup r.(?) p.(His25Argfs*19) Parent #1 - pathogenic g.175624272_175624288dup g.174759544_174759560dup - - CHRNA1_000011 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - 0 - DNA SEQ - - FADS - PubMed: Michalk 2008 2-generation family, 2 affecteds - - - Africa - 0 - - 2 Johan den Dunnen
+/. 2 c.117_133dup r.(?) p.(His25Argfs*19) Parent #2 - pathogenic g.175624272_175624288dup g.174759544_174759560dup - - CHRNA1_000011 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - 0 - DNA SEQ - - FADS - PubMed: Michalk 2008 2-generation family, 2 affecteds - - - Africa - 0 - - 2 Johan den Dunnen
+/. 2 c.117_133dup r.(?) p.(His25Argfs*19) Parent #1 - pathogenic g.175624272_175624288dup g.174759544_174759560dup - - CHRNA1_000011 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Michalk 2008 2-generation family, unaffected carrier parents - yes - Africa - 0 - - 2 Johan den Dunnen
+?/. - c.119G>A r.(?) p.(Arg40Gln) Parent #1 - likely pathogenic g.175624286C>T g.174759558C>T - - CHRNA1_000077 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P174 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - 1 Johan den Dunnen
-/. 2 c.120G>A r.(?) p.(=) Unknown - benign g.175624285C>T g.174759557C>T G57A - CHRNA1_000027 - PubMed: Ohno 1996 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.144C>T r.(?) p.(Val48=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.190-5del r.spl? p.? Unknown - benign g.175624116del g.174759388del CHRNA1(NM_001039523.3):c.190-5delT - CHRNA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.190-5del r.spl? p.? Unknown - benign g.175624116del g.174759388del 190-5delT - CHRNA1_000057 - - - rs34695580 Unknown ? 0.5 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
-/. 2i c.190-5dup r.= p.= Parent #1 - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Engel 1996 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y 0 - - 3 Johan den Dunnen
-/. 2i c.190-5dup r.= p.= Maternal (confirmed) - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Engel 1996 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y 0 - - 3 Johan den Dunnen
-/. 2i c.190-5dup r.= p.= Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Engel 1996 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y 0 - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.= p.= Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Ohno 1996 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - 0 - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Ohno 1997 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - 0 - - 2 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Paternal (confirmed) - benign g.175624116dup g.174759388dup IVS2-13insT - CHRNA1_000024 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y 0 - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Maternal (confirmed) - benign g.175624116dup g.174759388dup IVS2-13insT - CHRNA1_000024 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y 0 - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Paternal (confirmed) - benign g.175624116dup g.174759388dup IVS2-13insT - CHRNA1_000024 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y 0 - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Maternal (confirmed) - benign g.175624116dup g.174759388dup IVS2-13insT - CHRNA1_000024 - PubMed: Ohno 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y 0 - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Maternal (confirmed) - benign g.175624116dup g.174759388dup IVS2-13insT - CHRNA1_000024 - PubMed: Ohno 1999 - - Germline - - MspI- 0 - DNA SEQ - - - - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - 0 - - 3 Johan den Dunnen
-/. 2i c.190-5dup r.= p.= Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 control chromosomes PubMed: Engel 1996 - - Germline - 27/66 - 0 - DNA SEQ - - - - PubMed: Engel 1996 - - - United States - - 0 - - 27 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Unknown - benign g.175624116dup g.174759388dup IVS2-13insT - CHRNA1_000024 control chromosomes, reported 29/70 in 1997 PubMed: Ohno 1997, PubMed: Ohno 1999 - - Germline - 57/130 - 0 - DNA SEQ - - - - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - 0 - - 57 Johan den Dunnen
-?/. - c.190-5T>C r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.199A>T r.(?) p.(Asn67Tyr) Parent #1 - VUS g.175624094T>A g.174759366T>A - - CHRNA1_000042 Alamut-HumVar:0,95 (prob. Pathogenic); found in homozygeous state - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.224G>A r.(?) p.(Arg75His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224G>A r.(?) p.(Arg75His) Unknown - VUS g.175624069C>T - CHRNA1(NM_001039523.2):c.224G>A (p.R75H) - CHRNA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.257G>A r.(?) p.(Arg86His) Both (homozygous) - likely pathogenic g.175622726C>T g.174757998C>T - - CHRNA1_000076 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P116 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - 0 - - 1 Johan den Dunnen
+?/. - c.257G>A r.(?) p.(Arg86His) Parent #2 - likely pathogenic g.175622726C>T g.174757998C>T - - CHRNA1_000076 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P174 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.280G>A r.(?) p.(Val94Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.280G>T r.(?) p.(G94C) Unknown - pathogenic g.175622703C>A g.174757975C>A - - CHRNA1_000015 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.309+88G>A r.(=) p.(=) Parent #1 - benign g.175622586C>T g.174757858C>T - - CHRNA1_000041 - - - rs114403674 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.392G>A r.(?) p.(Trp131Ter) Unknown - likely 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.392G>A r.(?) p.(Trp131Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.392G>A r.(?) p.(Trp131Ter) Unknown - likely pathogenic g.175622321C>T - CHRNA1(NM_001039523.2):c.392G>A (p.W131*) - CHRNA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439A>G r.(?) p.(Ile147Val) Parent #1 - VUS g.175619123T>C g.174754395T>C - - CHRNA1_000043 Polyphen-2: possibly damaging - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. ? c.441del r.(?) p.(?) Unknown - pathogenic g.175619122del g.174754394del 441delC - CHRNA1_000016 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
+/. ? c.454G>C r.(?) p.(V152L) Unknown - pathogenic g.175619108C>G - - - CHRNA1_000017 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
+/. ? c.518dup r.(?) p.(?) Unknown - pathogenic g.175619044dup g.174754316dup 518dupG - CHRNA1_000018 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.529G>A r.(?) p.(Val177Ile) Unknown - VUS g.175619033C>T g.174754305C>T - - CHRNA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.592G>A r.(?) p.Gly198Ser Unknown - NA g.175618970C>T g.174754242C>T G153S - CHRNA1_000001 expression cloning human cDNA in Xenopus oocytes 6x prolonged burst duration - - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Maternal (confirmed) - NA g.175618970C>T g.174754242C>T G153S - CHRNA1_000001 expression cloning mouse cDNA in HEK293 cells channels prolonged activation episodes PubMed: Sine 1995 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.592G>A r.592g>a p.Gly198Ser Maternal (confirmed) - pathogenic g.175618970C>T g.174754242C>T G457A (G153S) - CHRNA1_000001 not in 200 control chromosomes PubMed: Sine 1995, PubMed: Croxen 1997 - - Germline - - AluI+ 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Sine 1995, PubMed: Croxen 1997 family, 5 affecteds - - Germany - - 0 - - 5 Johan den Dunnen
+/. 6 c.592G>A r.592g>a p.Gly198Ser Maternal (confirmed) - pathogenic g.175618970C>T g.174754242C>T 457G>A (Gly153Ser) - CHRNA1_000001 not in 120 control chromosomes PubMed: Croxen 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Chauplannaz 1994 case 1 {PMID07863154:Chauplannaz 1994}, 3-generation family, affected mother F - - - >41y 0 - - 2 Johan den Dunnen
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Parent #1 - pathogenic g.175618970C>T g.174754242C>T G457A (G153S) - CHRNA1_000001 not in 200 control chromosomes PubMed: Sine 1995 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - CMS - PubMed: Sine 1995 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Parent #1 - pathogenic g.175618970C>T g.174754242C>T Gly183Ser - CHRNA1_000001 - - - - Germline - - AluI+ 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Parent #1 - pathogenic g.175618970C>T g.174754242C>T Gly183Ser - CHRNA1_000001 - - - - Germline - - AluI+ 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Parent #1 - pathogenic g.175618970C>T g.174754242C>T Gly183Ser - CHRNA1_000001 - - - - Germline - - AluI+ 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+?/. 6 c.601G>A r.(?) p.Val201Met Unknown - NA g.175618961C>T g.174754233C>T V156M - CHRNA1_000003 expression cloning human cDNA in Xenopus oocytes 3x prolonged burst duration PubMed: Croxen 1997 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.601G>A r.601g>a p.Val201Met Parent #1 - pathogenic g.175618961C>T g.174754233C>T 466G>A (V156M) - CHRNA1_000003 not in 120 control chromosomes PubMed: Croxen 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Croxen 1997 2-generation family, only affected child of 6 M - - - >34y 0 - - 1 Johan den Dunnen
-?/. - c.615+4G>C r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.703T>C r.(?) p.(Tyr235His) Unknown - VUS g.175618381A>G g.174753653A>G - - CHRNA1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.737C>A r.(?) p.(S246Y) Unknown - pathogenic g.175618347G>T - - - CHRNA1_000019 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
+/. ? c.737C>T r.(?) p.(S246F) Unknown - pathogenic g.175618347G>A - - - CHRNA1_000020 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
+/. ? c.757T>G r.(?) p.(F253V) Unknown - pathogenic g.175618327A>C - - - CHRNA1_000007 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Wang 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Wang 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.761G>T r.(?) p.(Arg254Leu) Parent #1 - pathogenic g.175618323C>A g.174753595C>A (R234L) - CHRNA1_000012 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - 0 - DNA SEQ - - FADS - PubMed: Michalk 2008 4-generation family, 2 affected sibs - - Pakistan - - 0 - - 2 Johan den Dunnen
+/. 6 c.761G>T r.(?) p.(Arg254Leu) Parent #2 - pathogenic g.175618323C>A g.174753595C>A (R234L) - CHRNA1_000012 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - 0 - DNA SEQ - - FADS - PubMed: Michalk 2008 4-generation family, 2 affected sibs - - Pakistan - - 0 - - 2 Johan den Dunnen
+/. 6 c.761G>T r.(?) p.(Arg254Leu) Parent #1 - pathogenic g.175618323C>A g.174753595C>A (R234L) - CHRNA1_000012 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Michalk 2008 4-generation family, unaffected carrier parents - yes Pakistan - - 0 - - 2 Johan den Dunnen
+/. 7 c.786C>A r.(?) p.(Asn262Lys) Unknown - pathogenic g.175618298G>T g.174753570G>T - - CHRNA1_000028 - - - - Germline - - - 0 - DNA SEQ-NG - - CMS - - - F - United States - - 0 - - 1 Tom Winder
+/. 7 c.786C>G r.(?) p.Asn262Lys Unknown - NA g.175618298G>C g.174753570G>C C651G (N217K) - CHRNA1_000002 expression cloning mouse CHRNA1 cDNA in HEK293 cells showed prolonged channel open intervals/bursts, increased affinity for ACh, enhanced desensitization PubMed: Engel 1996 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.786C>G r.(?) p.(Asn262Lys) Maternal (confirmed) - pathogenic g.175618298G>C g.174753570G>C C651G (N217K) - CHRNA1_000002 not in 102 CMS/200 control chromosomes, segregates with disease PubMed: Engel 1996 - - Germline - - HincII- 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y 0 - - 3 Johan den Dunnen
+/. ? c.805G>T r.(?) p.(V269F) Unknown - pathogenic g.175618279C>A - - - CHRNA1_000006 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Milone 1997 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Milone 1997 - - - - - - 0 - - 1 Johan den Dunnen
+/. ? c.826T>C r.(?) p.(F276L) Unknown - pathogenic g.175618258A>G - - - CHRNA1_000009 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Beeson 2003 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Beeson 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.851C>A r.(?) p.(Ser284Ter) Unknown - pathogenic g.175618233G>T g.174753505G>T - - CHRNA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.854-14_854-12del r.(=) p.(=) Unknown - benign g.175614923_175614925del g.174750195_174750197del CHRNA1(NM_001039523.3):c.854-14_854-12delTTT - CHRNA1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.854-14_854-12del r.(=) p.(=) Unknown - benign g.175614923_175614925del g.174750195_174750197del 854-14_854-12delTTT - CHRNA1_000048 - - - rs773734065 Unknown ? 0.3 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
-/. - c.854-13_854-12del r.(=) p.(=) Unknown - benign g.175614924_175614925del g.174750196_174750197del CHRNA1(NM_000079.3):c.779-13_779-12del (p.(=)), CHRNA1(NM_001039523.3):c.854-13_854-12delTT - CHRNA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.854-13_854-12del r.(=) p.(=) Unknown - benign g.175614924_175614925del g.174750196_174750197del 854-13_854-12delTT - CHRNA1_000047 - - - rs139930312 Unknown ? 0.5 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
-/. - c.854-13_854-12del r.(=) p.(=) Unknown - benign g.175614924_175614925del - CHRNA1(NM_000079.3):c.779-13_779-12del (p.(=)), CHRNA1(NM_001039523.3):c.854-13_854-12delTT - CHRNA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.854-12del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.854-12del r.(=) p.(=) Unknown - benign g.175614925del - CHRNA1(NM_000079.3):c.779-14del (p.(=)), CHRNA1(NM_001039523.3):c.854-12delT - CHRNA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.854-8C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.854-3C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.863T>C r.(?) p.(Met288Thr) Unknown - VUS g.175614888A>G g.174750160A>G - - CHRNA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.866C>A r.(?) p.(Thr289Asn) Parent #1 - likely pathogenic g.175614885G>T g.174750157G>T Thr274Asn - CHRNA1_000022 no functional studies done to confirm predicted kinetic consequence - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+/. 8 c.896C>T r.(?) p.Thr299Ile Unknown - NA g.175614855G>A g.174750127G>A T254I - CHRNA1_000004 expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration PubMed: Croxen 1997 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.896C>T r.821c>u p.Thr299Ile Paternal (inferred) - pathogenic g.175614855G>A g.174750127G>A 761C>T (T254I) - CHRNA1_000004 not in 120 control chromosomes PubMed: Croxen 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Chauplannaz 1994 case 2 {PMID07863154:Chauplannaz 1994}, 2-generation family, affected brother and father F - France - >60y 0 - - 3 Johan den Dunnen
+/. ? c.913G>A r.(?) p.(V305I) Unknown - pathogenic g.175614838C>T - - - CHRNA1_000008 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Wang 1999 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Wang 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.941G>T r.(?) p.Ser314Ile Unknown - NA g.175614810C>A g.174750082C>A S269I - CHRNA1_000005 expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration PubMed: Croxen 1997 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.941G>T r.941g>u p.Ser314Ile Parent #1 - pathogenic g.175614810C>A g.174750082C>A 806G>T (S269I) - CHRNA1_000005 not in 120 control chromosomes PubMed: Croxen 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Oosterhuis 1987 3-generation family, 1 affected; case 1 {PMID03651795:Oosterhuis 1987} F - Netherlands - >28y 0 - - 1 Johan den Dunnen
?/. - c.941G>T r.(?) p.(Ser314Ile) Unknown - VUS g.175614810C>A g.174750082C>A - - CHRNA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.946A>C r.(?) p.(Ile316Leu) Unknown - pathogenic g.175614805T>G - - - CHRNA1_000021 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.959G>C r.(?) p.(Gly320Ala) Unknown - VUS g.175614792C>G - CHRNA1(NM_001039523.2):c.959G>C (p.G320A) - CHRNA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.977C>A r.(?) p.(Thr326Asn) Parent #1 - likely pathogenic g.175614774G>T g.174750046G>T Thr311Asn - CHRNA1_000023 no functional studies done to confirm predicted kinetic consequence - - - Germline - - - 0 - DNA SEQ - - CMS - - 2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance - - Germany - - 0 - - 2 Angela Abicht
+/. ? c.997C>T r.(?) p.(R333W) Unknown - pathogenic g.175614754G>A - - - CHRNA1_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Masuda 2008 - - Germline - - - 0 - DNA SEQ - - CMS - PubMed: Masuda 2008 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1035C>T r.(?) p.(His345=) Unknown - benign g.175614716G>A g.174749988G>A - - CHRNA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 8 c.1035C>T r.= p.= Unknown - benign g.175614716G>A g.174749988G>A C900T - CHRNA1_000025 - PubMed: Engel 1996 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y 0 - - 3 Johan den Dunnen
-/. 8 c.1035C>T r.= p.= Unknown - benign g.175614716G>A g.174749988G>A C900T - CHRNA1_000025 control chromosomes PubMed: Engel 1996 - - Germline - 13/278 - 0 - DNA, RNA SEQ - - - - PubMed: Engel 1996 - - - United States - - 0 - - 13 Johan den Dunnen
?/. - c.1043C>T r.(?) p.(Pro348Leu) Unknown - VUS g.175614708G>A g.174749980G>A - - CHRNA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1063G>T r.? p.Glu355* Unknown - likely pathogenic g.175614688C>A - - - CHRNA1_000074 - - - - Unknown - - - - - DNA SEQ-NG - - CMS1A 60 - - F - China - - - - - 1 Sha Hong
-?/. - c.1078-8T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.1264G>T r.(?) p.(V422F) Unknown - pathogenic g.175613361C>A g.174748633C>A - - CHRNA1_000014 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Johan den Dunnen
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