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 transcript reference sequence.

111 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 - - - - - DNA SEQ - - CMS - PubMed: Giraud 2007 - - - - - - - - - 1 Johan den Dunnen
+/. ? c.? r.(?) p.(?) Unknown - pathogenic g.? - - - CHRNA1_000000 - PubMed: Masuda 2008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Masuda 2008 - - - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 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- - - DNA SEQ - - - - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - - - - 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 - - - DNA SEQ - - - - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - - - - 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 - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 2-generation family, 2 affecteds - - - Africa - - - - 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 - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 2-generation family, 2 affecteds - - - Africa - - - - 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 - - - - - DNA SEQ - - - - PubMed: Michalk 2008 2-generation family, unaffected carrier parents - yes - Africa - - - - 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 - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P174 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 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 - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.190-5del r.spl? p.? Unknown - benign g.175624116del g.174759388del 190-5delT - CHRNA1_000057 - - - rs34695580 Unknown ? 0.5 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - 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 - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y - - - 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 - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y - - - 3 Johan den Dunnen
-/. 2i c.190-5dup r.= p.= Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.= p.= Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Ohno 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - - - - 1 Johan den Dunnen
-/. 2i c.190-5dup r.(?) p.(=) Unknown - benign g.175624116dup g.174759388dup 130-13insT - CHRNA1_000024 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 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- - - DNA SEQ - - - - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - - - - 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 - - - DNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 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 - - - DNA SEQ - - - - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 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 - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P116 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 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 - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P174 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 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 - - - - - DNA SEQ - - CMS - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.309+88G>A r.(=) p.(=) Parent #1 - benign g.175622586C>T g.174757858C>T - - CHRNA1_000041 - - - rs114403674 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 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(NM_001039523.3):c.392G>A (p.W131*) - CHRNA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.392G>A r.(?) p.(Trp131Ter) Unknown - pathogenic g.175622321C>T g.174757593C>T CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):c.392G>A (p.W131*) - CHRNA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.392G>A r.(?) p.(Trp131Ter) Unknown - likely pathogenic g.175622321C>T - CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):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 - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. ? c.441del r.(?) p.(?) Unknown - pathogenic g.175619122del g.174754394del 441delC - CHRNA1_000016 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - - - - - - - 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 - - - - - DNA SEQ - - CMS - - - - - - - - - - - 1 Johan den Dunnen
+/. ? c.518dup r.(?) p.(?) Unknown - pathogenic g.175619044dup g.174754316dup 518dupG - CHRNA1_000018 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - - - - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.592G>A r.592g>a p.Gly198Ser Maternal (confirmed) - pathogenic (dominant) g.175618970C>T g.174754242C>T G457A (G153S) - CHRNA1_000001 not in 200 control chromosomes PubMed: Sine 1995 - - Germline - - AluI+ - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS FamPat1 PubMed: Sine 1995 3-generation family, 5 affected (2F, 3M) F;M - Germany - - - - - 5 Johan den Dunnen
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Maternal (confirmed) - pathogenic g.175618970C>T g.174754242C>T - - CHRNA1_000001 not in 120 control chromosomes PubMed: Chauplannaz 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS Pat1 PubMed: Chauplannaz 1994 - F - - - >41y - - - 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+ - - DNA SEQ, SSCA - - CMS - PubMed: Sine 1995 - - - Germany - - - - - 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+ - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Parent #1 - pathogenic g.175618970C>T g.174754242C>T Gly183Ser - CHRNA1_000001 - - - - Germline - - AluI+ - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 6 c.592G>A r.(?) p.(Gly198Ser) Parent #1 - pathogenic g.175618970C>T g.174754242C>T Gly183Ser - CHRNA1_000001 - - - - Germline - - AluI+ - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 5 c.592G>A r.(?) p.(Gly198Ser) Maternal (inferred) - pathogenic (dominant) g.175618970C>T - 457G>A (G153S) - CHRNA1_000001 - PubMed: Croxen 1997 - - Germline - - - - - DNA SEQ - - CMS Pat3 PubMed: Croxen 1997 3-generation family, affected mother/daughter F - - - - - - - 2 Johan den Dunnen
+?/. 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.601G>A r.601g>a p.Val201Met Unknown - pathogenic g.175618961C>T g.174754233C>T 466G>A (V156M) - CHRNA1_000003 not in 120 control chromosomes PubMed: Croxen 1997 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS Pat1 PubMed: Croxen 1997 2-generation family, only affected child of 6 M - - - >34y - - - 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 - - - - - DNA SEQ - - CMS - - - - - - - - - - - 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 - - - - - DNA SEQ - - CMS - - - - - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Wang 1999 - - - - - - - - - 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 - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 4-generation family, 2 affected sibs - - Pakistan - - - - - 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 - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 4-generation family, 2 affected sibs - - Pakistan - - - - - 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 - - - - - DNA SEQ - - - - PubMed: Michalk 2008 4-generation family, unaffected carrier parents - yes Pakistan - - - - - 2 Johan den Dunnen
+/. 7 c.786C>A r.(?) p.(Asn262Lys) Unknown - pathogenic g.175618298G>T g.174753570G>T - - CHRNA1_000028 - - - - Germline - - - - - DNA SEQ-NG - - CMS - - - F - United States - - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 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- - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Milone 1997 - - - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Beeson 2003 - - - - - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - 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.854-13_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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.896C>T r.(?) p.(Thr299Ile) Paternal (inferred) - pathogenic g.175614855G>A - 761C>T (T254I) - CHRNA1_000004 - PubMed: Chauplannaz 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS Pat2 PubMed: Chauplannaz 1994 - F - France - >60y - - - 2 Johan den Dunnen
+/. 7 c.896C>T r.(?) p.(Thr299Ile) Paternal (inferred) - pathogenic (dominant) g.175614855G>A - 761C>T (T254I) - CHRNA1_000004 - PubMed: Croxen 1997 - - Germline - - - - - DNA SEQ - - CMS Pat2 PubMed: Croxen 1997 3-generation family, 3 affected (F, 2M) F;M - - - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Wang 1999 - - - - - - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.941G>T r.941g>u p.Ser314Ile Unknown - pathogenic (dominant) g.175614810C>A g.174750082C>A 806G>T (S269I) - CHRNA1_000005 not in 120 control chromosomes PubMed: Croxen 1997, PubMed: Boon 2022 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS Pat4/C1;Pat1 PubMed: Oosterhuis 1987, PubMed: Croxen 1997, PubMed: Boon 2022 3-generation family, 1 affected F - Netherlands - >28y - - - 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 - - - - - DNA SEQ - - CMS - - - - - - - - - - - 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 - - - - - DNA SEQ - - CMS - - 2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance - - Germany - - - - - 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 - - - - - DNA SEQ - - CMS - PubMed: Masuda 2008 - - - - - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.1035C>T r.= p.= Unknown - benign g.175614716G>A g.174749988G>A C900T - CHRNA1_000025 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y - - - 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 - - - DNA, RNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
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