Unique variants in gene CNTN1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001843.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.189C>T likely benign r.(?) p.(=) g.41312535C>T - CNTN1(NM_001843.3):c.189C>T (p.L63=) - CNTN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.804-8A>G likely benign r.(=) p.(=) g.41327491A>G - CNTN1(NM_001843.3):c.804-8A>G - CNTN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4 8 c.871dup - r.871dup p.Ser291Phefs*6 g.41327566dup - 871dupT - CNTN1_000001 mapped by linkage; not in 242 control chromosomes; CNTN1 expression 8-16x reduced, 1 more item PubMed: Compton 2008, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.873T>A likely benign r.(?) p.(=) g.41327568T>A - CNTN1(NM_001843.3):c.873T>A (p.=) - CNTN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1006C>T VUS r.(?) p.(His336Tyr) g.41330603C>T - CNTN1(NM_001256063.1):c.1006C>T (p.(His336Tyr), p.(His325Tyr)) - CNTN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1014T>C benign r.(?) p.(=) g.41330611T>C - CNTN1(NM_001843.3):c.1014T>C (p.N338=) - CNTN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1024G>A VUS r.(?) p.(Val342Met) g.41330621G>A - CNTN1(NM_001256063.1):c.1024G>A (p.(Val342Met), p.(Val331Met)) - CNTN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1251G>T likely benign r.(?) p.(Met417Ile) g.41333159G>T - CNTN1(NM_001843.3):c.1251G>T (p.M417I) - CNTN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1416C>T benign r.(=), r.(?) p.(=) g.41337435C>T - CNTN1(NM_001843.3):c.1416C>T (p.N472=) - CNTN1_000008 VKGL data sharing initiative Nederland - - rs1056019 Unknown, CLASSIFICATION record ? 0.65 controls - - - Florian Erger, VKGL-NL
-/. 1 - c.1805-14C>A benign r.(=) p.(=) g.41374697C>A - CNTN1(NM_001843.3):c.1805-14C>A - CNTN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2190G>A likely benign r.(?) p.(=) g.41410489G>A - CNTN1(NM_001843.3):c.2190G>A (p.=) - CNTN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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