Transcript #00017903

Transcript name transcript variant 1
Gene name RNF135 (ring finger protein 135)
Chromosome 17
Transcript - NCBI ID NM_032322.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_115698.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0
-/. 1 c.138G>A - r.(?) p.(=)
-/. 1 c.213C>G - r.(?) p.(His71Gln)
-?/. - c.299A>G likely benign r.(?) p.(His100Arg)
-/. 1 c.304C>T - r.(?) p.(Pro102Ser)
-/. 1 c.322C>T - r.(?) p.(Ser108Pro)
-/. 1 c.344G>A - r.(?) p.(Arg115Lys)
-?/. - c.344G>A likely benign r.(?) p.(Arg115Lys)
-/. 1 c.360G>T - r.(?) p.(=)
-?/. - c.527C>G likely benign r.(?) p.(Ser176Cys)
-/. 3 c.573C>T - r.(?) p.(=)
-?/. - c.573C>T likely benign r.(?) p.(=)
-?/. - c.664G>A likely benign r.(?) p.(Glu222Lys)
-?/. - c.680-3354C>T likely benign r.(=) p.(=)
+/. 4 c.727C>T - r.(?) p.(Gln243*)
-?/. - c.740C>T likely benign r.(?) p.(Ala247Val)
+/. 4 c.742delC - r.(?) p.(Leu248Serfs*18)
?/. - c.769+2dup VUS r.spl? p.?
-?/. - c.856C>T likely benign r.(?) p.(Arg286Cys)
?/. 5 c.857G>A - r.(?) p.(Arg286His)
-/. 5 c.936C>T - r.(?) p.(=)
-?/. - c.1009G>A likely benign r.(?) p.(Asp337Asn)
-?/. - c.1009G>A likely benign r.(?) p.(Asp337Asn)
+/. 5 c.1015delG - r.(?) p.(Val339Serfs*32)
+/. 5 c.1015delG - r.(?) p.(Val339Serfs*32)
-/. 5 c.1245G>T - r.(?) p.(Trp415Cys)
-/. 5 c.1245G>T - r.(?) p.(Trp415Cys)
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