Full data view for 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.

16 entries on 1 page. Showing entries 1 - 16.
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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.189C>T r.(?) p.(Leu63=) Unknown - likely benign g.41312535C>T g.40918733C>T CNTN1(NM_001843.3):c.189C>T (p.L63=) - CNTN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.400+13T>C r.(=) p.(=) Unknown - likely benign g.41316243T>C - CNTN1(NM_001843.4):c.400+13T>C - CNTN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804-8A>G r.(=) p.(=) Unknown - likely benign g.41327491A>G g.40933689A>G CNTN1(NM_001843.3):c.804-8A>G, CNTN1(NM_001843.4):c.804-8A>G - CNTN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.804-8A>G r.(=) p.(=) Unknown - likely benign g.41327491A>G - CNTN1(NM_001843.3):c.804-8A>G, CNTN1(NM_001843.4):c.804-8A>G - CNTN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.871dup r.871dup p.Ser291Phefs*6 Both (homozygous) - pathogenic g.41327566dup g.40933764dup 871dupT - CNTN1_000001 mapped by linkage; not in 242 control chromosomes; CNTN1 expression 8-16x reduced PubMed: Compton 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYPCN - PubMed: Jones 2003 5-generation family, 4 affecteds, 9 carriers, consanguineous parents (1st degree) M yes Egypt - 0d 0 - - 4 Johan den Dunnen
+/. 8 c.871dup r.871dup p.Ser291Phefs*6 Both (homozygous) - pathogenic g.41327566dup g.40933764dup 871dupT - CNTN1_000001 mapped by linkage; not in 242 control chromosomes PubMed: Compton 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYPCN - PubMed: Jones 2003 brother of 19026398-V.2 M yes Egypt - 0d 0 - - 1 Johan den Dunnen
+/. 8 c.871dup r.871dup p.Ser291Phefs*6 Both (homozygous) - pathogenic g.41327566dup g.40933764dup 871dupT - CNTN1_000001 mapped by linkage; not in 242 control chromosomes PubMed: Compton 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYPCN - PubMed: Jones 2003 sister of 19026398-V.2 F yes Egypt - 0d 0 - - 1 Johan den Dunnen
+/. 8 c.871dup r.871dup p.Ser291Phefs*6 Both (homozygous) - pathogenic g.41327566dup g.40933764dup 871dupT - CNTN1_000001 mapped by linkage; not in 242 control chromosomes PubMed: Compton 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYPCN - PubMed: Jones 2003 niece of 19026398-V.2 F yes Egypt - 1m 0 - - 1 Johan den Dunnen
?/. - c.1006C>T r.(?) p.(His336Tyr) Unknown - VUS g.41330603C>T g.40936801C>T CNTN1(NM_001256063.1):c.1006C>T (p.(His336Tyr)) - CNTN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1014T>C r.(?) p.(Asn338=) Unknown - benign g.41330611T>C g.40936809T>C CNTN1(NM_001843.4):c.1014T>C (p.N338=) - CNTN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - VUS g.41330621G>A g.40936819G>A CNTN1(NM_001256063.1):c.1024G>A (p.(Val342Met)) - CNTN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1401T>C r.(?) p.(Gly467=) Unknown - likely benign g.41337420T>C - CNTN1(NM_001843.4):c.1401T>C (p.G467=) - CNTN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1416C>T r.(=) p.(=) Unknown - benign g.41337435C>T g.40943633C>T - - CNTN1_000008 - - - rs1056019 Unknown ? 0.65 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
-/. - c.1416C>T r.(?) p.(Asn472=) Unknown - benign g.41337435C>T g.40943633C>T CNTN1(NM_001843.4):c.1416C>T (p.N472=) - CNTN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1805-14C>A r.(=) p.(=) Unknown - benign g.41374697C>A g.40980895C>A CNTN1(NM_001843.4):c.1805-14C>A - CNTN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1956A>G r.(?) p.(Ala652=) Unknown - likely benign g.41374862A>G g.40981060A>G CNTN1(NM_001843.3):c.1956A>G (p.(=)) - CNTN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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