Transcript #00005422

Transcript name transcript variant 1
Gene name CNTN1 (contactin 1)
Chromosome 12
Transcript - NCBI ID NM_001843.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001834.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.189C>T likely benign r.(?) p.(=)
-?/. - c.804-8A>G likely benign r.(=) p.(=)
+/. 8 c.871dup - r.871dup p.Ser291Phefs*6
+/. 8 c.871dup - r.871dup p.Ser291Phefs*6
+/. 8 c.871dup - r.871dup p.Ser291Phefs*6
+/. 8 c.871dup - r.871dup p.Ser291Phefs*6
-?/. - c.873T>A likely benign r.(?) p.(=)
?/. - c.1006C>T VUS r.(?) p.(His336Tyr)
-/. - c.1014T>C benign r.(?) p.(=)
?/. - c.1024G>A VUS r.(?) p.(Val342Met)
-?/. - c.1251G>T likely benign r.(?) p.(Met417Ile)
-/. - c.1416C>T - r.(=) p.(=)
-/. - c.1416C>T benign r.(?) p.(=)
-/. - c.1805-14C>A benign r.(=) p.(=)
-?/. - c.2190G>A likely benign r.(?) p.(=)
Legend