Full data view for gene RPS10

Information The variants shown are described using the NM_001203245.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-29C>T r.(?) p.(=) Parent #1 - likely benign g.34393837G>A g.34426060G>A - - RPS10_000018 54 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140822093 Germline - 54/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 54 Mohammed Faruq
+?/. - c.(?_1-2)_(150+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_34392847)_(34393000_?)del - - - RPS10_000012 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel32 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.? p.? Parent #1 - pathogenic (dominant) g.34392996C>T g.34425219C>T - - RPS10_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA322 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.34392996C>T g.34425219C>T Met1Ile - RPS10_000001 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat1 PubMed: Doherty 2010 - M - - ? - - - - 1 LOVD
-?/. - c.6G>A r.(?) p.(=) Unknown - likely benign g.34392993C>T - RPS10(NM_001014.5):c.6G>A (p.(Leu2=)) - NUDT3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_151-2)_(322+2_?)del r.? p.? Unknown - likely pathogenic g.(?_34392444)_(34392619_?)del - - - RPS10_000009 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel31 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.231G>A r.(?) p.(Gln77=) Unknown - likely benign g.34392537C>T g.34424760C>T RPS10(NM_001203245.2):c.231G>A (p.Q77=) - RPS10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.256del r.(?) p.(Pro87Argfs*97) Parent #1 - pathogenic (dominant) g.34392512del g.34424735del g.34392508del - RPS10_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA060 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.260dup r.(?) p.Glu88Glyfs*10 Unknown - pathogenic (dominant) g.34392512dup g.34424735dup c.260_261insC - RPS10_000002 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat2 PubMed: Doherty 2010 - F - - ? - - - - 1 LOVD
+/. - c.262_274dup r.(?) p.(Ala92Glyfs*10) Parent #1 - pathogenic (dominant) g.34392495_34392507dup g.34424718_34424730dup g.34392493_34392494insCAGGCACAATCTC - RPS10_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA149 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_323-52)_(400+51_?)del r.? p.? Unknown - likely pathogenic g.(?_34389456)_(34389636_?)del - - - RPS10_000006 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel29 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_323-2)_(400+2_?)del r.? p.? Unknown - likely pathogenic g.(?_34389505)_(34389586_?)del - - - RPS10_000007 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel30 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic (dominant) g.34389570G>A g.34421793G>A - - RPS10_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA016 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic (dominant) g.34389570G>A g.34421793G>A - - RPS10_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA046 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic (dominant) g.34389570G>A g.34421793G>A - - RPS10_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA131 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic (dominant) g.34389570G>A g.34421793G>A - - RPS10_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA176 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113*) Unknown - pathogenic (dominant) g.34389570G>A g.34421793G>A Arg113stop - RPS10_000003 - PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat3 PubMed: Doherty 2010 2-generation family, 1 affected, unaffected non-carrier parents M - - ? - - - - 1 LOVD
+?/? - c.337C>T r.(?) p.(Arg113*) Unknown - pathogenic (dominant) g.34389570G>A g.34421793G>A Arg113stop - RPS10_000003 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat4 PubMed: Doherty 2010 - F - - ? - - - - 1 LOVD
+?/? - c.337C>T r.(?) p.(Arg113*) Unknown - likely pathogenic g.34389570G>A g.34421793G>A Arg113stop - RPS10_000003 - PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat5 PubMed: Doherty 2010 2-generation family, 1 affected, unaffected non-carrier parents F - - ? - - - - 1 LOVD
-/. - c.401-18C>T r.(=) p.(=) Parent #1 - benign g.34386219G>A g.34418442G>A - - RPS10_000017 257 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41269040 Germline - 257/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 257 Mohammed Faruq
-/. - c.401-18C>T r.(=) p.(=) Both (homozygous) - benign g.34386219G>A g.34418442G>A - - RPS10_000017 12 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41269040 Germline - 12/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+?/. - c.(?_401-2)_(456+2_?)del r.? p.? Unknown - likely pathogenic g.(?_34386144)_(34386203_?)del - - - RPS10_000005 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel28 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.408C>T r.(?) p.(Ala136=) Unknown - likely benign g.34386194G>A g.34418417G>A RPS10(NM_001203245.2):c.408C>T (p.A136=) - NUDT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457-352A>G r.(=) p.(=) Unknown - likely benign g.34385676T>C - - - NUDT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457-244A>G r.(=) p.(=) Parent #1 - pathogenic (dominant) g.34385568T>C g.34417791T>C - - RPS10_000004 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA281 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_457-52)_(*51_?)del r.? p.? Unknown - likely pathogenic g.(?_34385232)_(34385376_?)del - - - RPS10_000015 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel26 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_457-2)_(*2_?)del r.? p.? Unknown - likely pathogenic g.(?_34385281)_(34385326_?)del - - - RPS10_000016 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel27 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
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