All transcript variants in gene RNF135

Information The variants shown are described using the NM_032322.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_29298091)_(29326210_?)del - - - RNF135_000001 deletion includes CRLF3, C17orf41, C17orf42, CENTA PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.138G>A - r.(?) p.(=) g.29298229G>A g.30971211G>A - - RNF135_000006 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.213C>G - r.(?) p.(His71Gln) g.29298304C>G g.30971286C>G - - RNF135_000007 common variant PubMed: Douglas 2007 - rs7225888 Germline - - - 0 - Johan den Dunnen
-?/. - c.299A>G likely benign r.(?) p.(His100Arg) g.29298390A>G - RNF135(NM_001184992.1):c.299A>G (p.(His100Arg)) - RNF135_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 c.304C>T - r.(?) p.(Pro102Ser) g.29298395C>T g.30971377C>T - - RNF135_000008 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.322C>T - r.(?) p.(Ser108Pro) g.29298413C>T g.30971395C>T - - RNF135_000009 common variant PubMed: Douglas 2007 - rs7211440 Germline - - - 0 - Johan den Dunnen
-/. 1 c.344G>A - r.(?) p.(Arg115Lys) g.29298435G>A g.30971417G>A - - RNF135_000010 common variant PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.344G>A likely benign r.(?) p.(Arg115Lys) g.29298435G>A - RNF135(NM_001184992.1):c.344G>A (p.(Arg115Lys)) - RNF135_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 c.360G>T - r.(?) p.(=) g.29298451G>T g.30971433G>T - - RNF135_000011 common variant PubMed: Douglas 2007 - rs7224960 Germline - - - 0 - Johan den Dunnen
-?/. - c.527C>G likely benign r.(?) p.(Ser176Cys) g.29314972C>G - RNF135(NM_001184992.1):c.527C>G (p.(Ser176Cys)) - RNF135_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 c.573C>T - r.(?) p.(=) g.29315018C>T g.30988000C>T - - RNF135_000012 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.573C>T likely benign r.(?) p.(=) g.29315018C>T - RNF135(NM_001184992.1):c.573C>T (p.D191=) - RNF135_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.664G>A likely benign r.(?) p.(Glu222Lys) g.29315109G>A - RNF135(NM_001184992.1):c.664G>A (p.E222K) - RNF135_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.680-3354C>T likely benign r.(=) p.(=) g.29320906C>T - RNF135(NM_001184992.1):c.728C>T (p.(Ser243Leu)) - RNF135_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4 c.727C>T - r.(?) p.(Gln243*) g.29324307C>T g.30997289C>T - - RNF135_000002 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.740C>T likely benign r.(?) p.(Ala247Val) g.29324320C>T - RNF135(NM_001184992.1):c.805C>T (p.H269Y) - RNF135_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4 c.742delC - r.(?) p.(Leu248Serfs*18) g.29324322delC g.30997304delC - - RNF135_000003 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
?/. - c.769+2dup VUS r.spl? p.? g.29324351dup - RNF135(NM_001184992.2):c.834+2dupT - RNF135_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.856C>T likely benign r.(?) p.(Arg286Cys) g.29325766C>T - RNF135(NM_032322.3):c.856C>T (p.R286C) - RNF135_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 5 c.857G>A - r.(?) p.(Arg286His) g.29325767G>A g.30998749G>A - - RNF135_000005 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 5 c.936C>T - r.(?) p.(=) g.29325846C>T g.30998828C>T - - RNF135_000013 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1009G>A likely benign r.(?) p.(Asp337Asn) g.29325919G>A - RNF135(NM_001184992.1):c.*213G>A (p.(=)), RNF135(NM_032322.3):c.1009G>A (p.D337N) - RNF135_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1009G>A likely benign r.(?) p.(Asp337Asn) g.29325919G>A - RNF135(NM_001184992.1):c.*213G>A (p.(=)), RNF135(NM_032322.3):c.1009G>A (p.D337N) - RNF135_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.1015delG - r.(?) p.(Val339Serfs*32) g.29325925delG g.30998907delG - - RNF135_000004 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.1015delG - r.(?) p.(Val339Serfs*32) g.29325925delG g.30998907delG - - RNF135_000004 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 5 c.1245G>T - r.(?) p.(Trp415Cys) g.29326155G>T g.30999137G>T - - RNF135_000014 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 5 c.1245G>T - r.(?) p.(Trp415Cys) g.29326155G>T g.30999137G>T - - RNF135_000014 - PubMed: Douglas 2007 - - Germline - - - 0 - Johan den Dunnen
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