Full data view for gene RNF40

Information The variants shown are described using the NM_014771.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
./. - c.-3590602_*1103249dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-2673752_*3814565del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-9038G>A r.(?) p.(=) Unknown - likely benign g.30764715G>A - PHKG2(NM_000294.2):c.393G>A (p.R131=) - C16orf93_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8871_-8870dup r.(?) p.(=) Unknown - likely benign g.30764882_30764883dup - PHKG2(NM_000294.2):c.556+3_556+4dupGA - C16orf93_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6044G>A r.(?) p.(=) Unknown - likely benign g.30767709G>A g.30756388G>A PHKG2(NM_000294.2):c.669G>A (p.L223=) - C16orf93_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5723G>T r.(?) p.(=) Unknown - likely benign g.30768030G>T - PHKG2(NM_000294.2):c.921G>T (p.R307=) - C16orf93_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5565C>G r.(?) p.(=) Unknown - VUS g.30768188C>G g.30756867C>G PHKG2(NM_000294.2):c.991C>G (p.L331V) - C16orf93_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5525G>A r.(?) p.(=) Unknown - VUS g.30768228G>A - PHKG2(NM_000294.2):c.1031G>A (p.R344Q) - C16orf93_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5481G>A r.(?) p.(=) Unknown - VUS g.30768272G>A - PHKG2(NM_000294.2):c.1075G>A (p.(Gly359Arg)) - C16orf93_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4910C>T r.(?) p.(=) Unknown - VUS g.30768843C>T g.30757522C>T C16orf93(NM_001014979.2):c.950G>A (p.(Arg317Gln)) - C16orf93_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4795G>A r.(?) p.(=) Unknown - VUS g.30768958G>A g.30757637G>A C16orf93(NM_001014979.2):c.835C>T (p.(Arg279Ter)) - C16orf93_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3373G>A r.(?) p.(=) Unknown - VUS g.30770380G>A g.30759059G>A C16orf93(NM_001014979.2):c.770C>T (p.(Pro257Leu)) - C16orf93_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2764A>C r.(?) p.(=) Unknown - VUS g.30770989A>C g.30759668A>C C16orf93(NM_001014979.2):c.526T>G (p.(Cys176Gly)) - C16orf93_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-830C>T r.(?) p.(=) Unknown - likely benign g.30772923C>T g.30761602C>T C16orf93(NM_001014979.2):c.147G>A (p.(=)) - C16orf93_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-693G>A r.(?) p.(=) Unknown - VUS g.30773060G>A g.30761739G>A C16orf93(NM_001014979.2):c.10C>T (p.(Arg4Cys)) - C16orf93_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36C>G r.(?) p.(Asp12Glu) Unknown - likely benign g.30773902C>G g.30762581C>G RNF40(NM_001207033.1):c.36C>G (p.(Asp12Glu)) - C16orf93_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310A>G r.(?) p.(Thr104Ala) Unknown - VUS g.30774748A>G g.30763427A>G RNF40(NM_014771.3):c.310A>G (p.T104A) - RNF40_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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