Transcript #00017783

Transcript name transcript variant 1
Gene name RIN2 (Ras and Rab interactor 2)
Chromosome 20
Transcript - NCBI ID NM_001242581.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001229510.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.232G>A - r.(?) p.(Gly78Arg)
-?/. - c.494C>T - r.(?) p.(Pro165Leu)
-/. - c.736T>A benign r.(?) p.(Ser246Thr)
-/. - c.736T>A benign r.(?) p.(Ser246Thr)
-?/. - c.775+7G>A likely benign r.(=) p.(=)
-/. - c.951C>T benign r.(?) p.(=)
-?/. - c.951C>T - r.(=) p.(=)
-?/. - c.1037A>T likely benign r.(?) p.(Asn346Ile)
-?/. - c.1063_1064insG likely benign r.(?) p.(Ser355Cysfs*12)
-?/. - c.1063_1064insGC likely benign r.(?) p.(Ser355Cysfs*42)
-?/. - c.1063_1064insGCC likely benign r.(?) p.(Ser355delinsCysPro)
-?/. - c.1075_1076del likely benign r.(?) p.(Arg359Alafs*7)
-?/. - c.1075_1077del likely benign r.(?) p.(Arg359del)
-?/. - c.1076G>C likely benign r.(?) p.(Arg359Thr)
-?/. - c.1077G>C likely benign r.(?) p.(Arg359Ser)
-/. - c.1083G>C benign r.(?) p.(=)
-?/. - c.1086A>C likely benign r.(?) p.(=)
-?/. - c.1090G>C likely benign r.(?) p.(Ala364Pro)
-/. - c.1092T>C benign r.(?) p.(=)
-/. - c.1191G>C benign r.(?) p.(=)
-?/. - c.1562C>G likely benign r.(?) p.(Thr521Ser)
-?/. - c.1789G>A - r.(?) p.(Val597Met)
-/. - c.1965C>T benign r.(?) p.(=)
-/. - c.1965C>T benign r.(?) p.(=)
+?/. - c.2085del pathogenic (recessive) r.(?) p.(Asp696Ilefs*13)
+?/. - c.2085del pathogenic (recessive) r.(?) p.(Asp696Ilefs*13)
+?/. - c.2085del pathogenic (recessive) r.(?) p.(Asp696Ilefs*13)
+?/. - c.2085del pathogenic (recessive) r.(?) p.(Asp696Ilefs*13)
+?/. - c.2085del pathogenic (recessive) r.(?) p.(Asp696Ilefs*13)
-?/. - c.2113G>A likely benign r.(?) p.(Val705Ile)
-?/. - c.2113G>A likely benign r.(?) p.(Val705Ile)
-/. - c.2148G>A benign r.(?) p.(=)
?/. - c.2648A>T VUS r.(?) p.(Tyr883Phe)
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