Full data view for gene RNF135

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

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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ID_report     

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Owner     
+/. _1_5_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #1 - pathogenic g.(?_29298091)_(29326210_?)del - - - RNF135_000001 deletion includes CRLF3, C17orf41, C17orf42, CENTA PubMed: Douglas 2007 - - Germline - - - 0 - DNA MLPA - - MMFD - PubMed: Douglas 2007 Mother: no clinical information available M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. 1 c.138G>A r.(?) p.(=) Parent #1 - benign g.29298229G>A g.30971211G>A - - RNF135_000006 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.213C>G r.(?) p.(His71Gln) Parent #1 - benign g.29298304C>G g.30971286C>G - - RNF135_000007 common variant PubMed: Douglas 2007 - rs7225888 Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Glu91Ter) Unknown - VUS g.29298362G>T g.30971344G>T RNF135(NM_001184992.1):c.271G>T (p.E91*) - RNF135_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.292C>G r.(?) p.(Pro98Ala) Unknown - likely benign g.29298383C>G - RNF135(NM_001184992.1):c.292C>G (p.(Pro98Ala)) - RNF135_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299A>G r.(?) p.(His100Arg) Unknown - likely benign g.29298390A>G g.30971372A>G RNF135(NM_001184992.1):c.299A>G (p.(His100Arg)) - RNF135_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.304C>T r.(?) p.(Pro102Ser) Parent #1 - benign g.29298395C>T g.30971377C>T - - RNF135_000008 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.322C>T r.(?) p.(Ser108Pro) Parent #1 - benign g.29298413C>T g.30971395C>T - - RNF135_000009 common variant Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Douglas 2007 - rs7211440 Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.344G>A r.(?) p.(Arg115Lys) Parent #1 - benign g.29298435G>A g.30971417G>A - - RNF135_000010 common variant PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.344G>A r.(?) p.(Arg115Lys) Unknown - likely benign g.29298435G>A g.30971417G>A RNF135(NM_001184992.1):c.344G>A (p.(Arg115Lys)) - RNF135_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.360G>T r.(?) p.(=) Parent #1 - benign g.29298451G>T g.30971433G>T - - RNF135_000011 common variant PubMed: Douglas 2007 - rs7224960 Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.527C>G r.(?) p.(Ser176Cys) Unknown - likely benign g.29314972C>G g.30987954C>G RNF135(NM_001184992.1):c.527C>G (p.(Ser176Cys)) - RNF135_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.573C>T r.(?) p.(=) Parent #1 - benign g.29315018C>T g.30988000C>T - - RNF135_000012 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.573C>T r.(?) p.(Asp191=) Unknown - likely benign g.29315018C>T g.30988000C>T RNF135(NM_001184992.1):c.573C>T (p.D191=) - RNF135_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.664G>A r.(?) p.(Glu222Lys) Unknown - likely benign g.29315109G>A g.30988091G>A RNF135(NM_001184992.1):c.664G>A (p.E222K) - RNF135_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.680-3354C>T r.(=) p.(=) Unknown - likely benign g.29320906C>T g.30993888C>T RNF135(NM_001184992.1):c.728C>T (p.(Ser243Leu)) - RNF135_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.727C>T r.(?) p.(Gln243*) Parent #1 - pathogenic g.29324307C>T g.30997289C>T - - RNF135_000002 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 Mother and brother: mild learning disability, macrocephaly dysmorphism F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.740C>T r.(?) p.(Ala247Val) Unknown - likely benign g.29324320C>T g.30997302C>T RNF135(NM_001184992.1):c.805C>T (p.H269Y) - RNF135_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.742del r.(?) p.(Leu248Serfs*18) Parent #1 - pathogenic g.29324322del g.30997304del - - RNF135_000003 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 Father: overgrowth only F - France - - 0 - - 1 Johan den Dunnen
?/. - c.769+2dup r.spl? p.? Unknown - VUS g.29324351dup g.30997333dup RNF135(NM_001184992.2):c.834+2dupT - RNF135_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.806C>G r.(?) p.(Ser269Cys) Unknown - likely benign g.29325716C>G - RNF135(NM_001184992.1):c.*10C>G (p.(=)) - RNF135_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.856C>T r.(?) p.(Arg286Cys) Unknown - likely benign g.29325766C>T g.30998748C>T RNF135(NM_032322.3):c.856C>T (p.R286C) - RNF135_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.857G>A r.(?) p.(Arg286His) Parent #1 - VUS g.29325767G>A g.30998749G>A - - RNF135_000005 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 Father: macrocephaly F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.862C>G r.(?) p.(Gln288Glu) Unknown - VUS g.29325772C>G g.30998754C>G RNF135(NM_032322.3):c.862C>G (p.Q288E) - RNF135_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.936C>T r.(?) p.(=) Parent #1 - benign g.29325846C>T g.30998828C>T - - RNF135_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - ? - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1009G>A r.(?) p.(Asp337Asn) Unknown - likely benign g.29325919G>A g.30998901G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1009G>A r.(?) p.(Asp337Asn) Unknown - likely benign g.29325919G>A g.30998901G>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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1015del r.(?) p.(Val339SerfsTer42) Parent #1 - pathogenic g.29325925del g.30998907del - - RNF135_000004 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 Father and brother: speech delay and macrocephaly F - China - - 0 - - 1 Johan den Dunnen
+/. 5 c.1015del r.(?) p.(Val339SerfsTer42) Parent #1 - pathogenic g.29325925del g.30998907del - - RNF135_000004 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 Mother: macrocephaly F - China - - 0 - - 1 Johan den Dunnen
-/. 5 c.1245G>T r.(?) p.(Trp415Cys) Parent #1 - benign g.29326155G>T g.30999137G>T - - RNF135_000014 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 5 c.1245G>T r.(?) p.(Trp415Cys) Parent #1 - benign g.29326155G>T g.30999137G>T - - RNF135_000014 - PubMed: Douglas 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - MMFD - PubMed: Douglas 2007 - - - - - - 0 - - 4 Johan den Dunnen
-?/. - c.1245G>T r.(?) p.(Trp415Cys) Parent #1 - likely benign g.29326155G>T g.30999137G>T - - RNF135_000014 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61749868 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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