Full data view for gene CHRNE

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000080.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     
-/. 11 c.1293C>T r.(?) p.(=) Maternal (confirmed) - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier mother 10562302-Pat1 F - - - - - - - 1 Johan den Dunnen
-/. 11 c.1293C>T r.(?) p.(=) Unknown - benign g.4802329G>A g.4899034G>A C1233T - CHRNE_000086 - PubMed: Sine 1995 - - Germline - - - - - 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
-/. 11 c.1293C>T r.1293c>u p.= Unknown - benign g.4802329G>A g.4899034G>A C1233T - CHRNE_000086 - 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
-/. 11 c.1293C>T r.(?) p.(=) Unknown - benign g.4802329G>A g.4899034G>A C1233T - CHRNE_000086 - 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
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age F - (Germany) - - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age F - (Germany) - - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age M - (Germany) - - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age M - (Germany) - - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - - - PubMed: Abicht 1999 - - - (Germany) - - - - - 4 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Hungary gypsy - - - - 4 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Hungary gypsy - - - - 4 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia gypsy - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia gypsy - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Serbia gypsy - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Serbia gypsy - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Bohemia, gypsy - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Bohemia, gypsy - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia - - - - - 2 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia - - - - - 2 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Turkey - - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Turkey - - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #1 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Kosovo - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Parent #2 - benign g.4802329G>A g.4899034G>A 1233C>T - CHRNE_000086 - PubMed: Abicht 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Kosovo - - - - 1 Angela Abicht
-/. 11 c.1293C>T r.(?) p.(=) Unknown - benign g.4802329G>A g.4899034G>A C1233T - CHRNE_000086 control chromosomes PubMed: Engel 1996 - - Germline - 9/74 - - - DNA, RNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 9 Johan den Dunnen
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