Transcript #00022025 (NM_017775.3, TTC19 gene)

Transcript name transcript variant 1
Gene name TTC19 (tetratricopeptide repeat domain 19)
Chromosome 17
Transcript - NCBI ID NM_017775.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060245.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-24677C>T r.(?) p.(=)
+/. - c.-42G>T r.(=) p.(=)
+?/. - c.7C>T r.(?) p.(Arg3Trp)
-?/. - c.87C>T r.(?) p.(Leu29=)
-?/. - c.112C>A r.(?) p.(Pro38Thr)
-?/. - c.273G>A r.(?) p.(Glu91=)
-?/. - c.283G>C r.(?) p.(Glu95Gln)
-?/. - c.313-4T>C r.spl? p.?
-?/. - c.313-4T>C r.spl? p.?
-?/. - c.369T>A r.(?) p.(Leu123=)
+/. - c.465del r.(?) p.(Glu156AsnfsTer8)
+/. - c.656T>G r.(?) p.(Leu219Ter)
-/. - c.675+43C>A r.(=) p.(=)
-/. - c.676-39A>G r.(=) p.(=)
-?/. - c.692A>G r.(?) p.(Asn231Ser)
?/. - c.787-5T>G r.spl? p.?
+/. 5 c.880C>T r.(?) p.(Gln294*)
-?/. - c.898A>C r.(?) p.(Ile300Leu)
-?/. - c.906G>A r.(?) p.(Met302Ile)
-?/. - c.977C>T r.(?) p.(Ala326Val)
+/. - c.1006C>T r.(?) p.(Gln336Ter)
+/. 7 c.1019T>G r.(?) p.(Leu340*)
+/. 7 c.1019T>G r.(?) p.(Leu340*)
+/. 7 c.1019T>G r.(?) p.(Leu340*)
-/. - c.1041A>G r.(?) p.(Gln347=)
-?/. - c.1041A>G r.(?) p.(Gln347=)
?/. - c.1072C>T r.(?) p.(Gln358Ter)
+/. - c.1108_1112del r.(?) p.(Lys370Ter)
?/. - c.1357+71G>A r.(=) p.(=)
?/. - c.*335C>T r.(=) p.(=)
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