Full data view for gene RPS6KA3

Information The variants shown are described using the NM_004586.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.20C>T likely benign r.(?) p.(Ala7Val) Unknown g.20284731G>A - RPS6KA3(NM_004586.2):c.20C>T (p.A7V) - RPS6KA3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70-86dup - - p.(=) Unknown g.20253018dup g.20234900dup - - RPS6KA3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.83T>C VUS r.(?) p.(Ile28Thr) Unknown g.20252919A>G - RPS6KA3(NM_004586.2):c.83T>C (p.I28T) - RPS6KA3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.113T>G benign r.(?) p.(Ile38Ser) Unknown g.20252889A>C - - - RPS6KA3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.113T>G - r.(?) p.(Ile38Ser) Parent #1 g.20252889A>C - I38S - RPS6KA3_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.139A>G likely benign r.(?) p.(Ile47Val) Unknown g.20227510T>C - RPS6KA3(NM_004586.2):c.139A>G (p.I47V, p.(Ile47Val)) - RPS6KA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.139A>G likely benign r.(?) p.(Ile47Val) Unknown g.20227510T>C - RPS6KA3(NM_004586.2):c.139A>G (p.I47V, p.(Ile47Val)) - RPS6KA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213A>G likely benign r.(?) p.(=) Unknown g.20227436T>C - RPS6KA3(NM_004586.2):c.213A>G (p.L71=) - RPS6KA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.213A>G - r.(=) p.(=) Parent #1 g.20227436T>C - L71L - RPS6KA3_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.213A>G benign r.(?) p.(=) Unknown g.20227436T>C - RPS6KA3(NM_004586.2):c.213A>G (p.L71=) - RPS6KA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.243+1G>T pathogenic r.spl? p.? Unknown g.20227405C>A - - - RPS6KA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.256A>T pathogenic (dominant) r.(?) p.(Lys86*) Unknown g.20222209T>A - - - RPS6KA3_000039 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat06 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.325+2del pathogenic r.spl? p.? Unknown g.20222138del - - - RPS6KA3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.609del pathogenic r.(?) p.(Glu204Lysfs*6) Unknown g.20206638del - - - RPS6KA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629C>G pathogenic r.(?) p.(Thr210Arg) Parent #1 g.20206617G>C g.20188499G>C - - RPS6KA3_000004 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.775-64del - - p.(=) Unknown g.20204548del g.20186430del - - RPS6KA3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.798C>A benign r.(?) p.(=) Unknown g.20204461G>T - RPS6KA3(NM_004586.2):c.798C>A (p.L266=) - RPS6KA3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.827C>A - r.(?) p.(Thr276Lys) Maternal (inferred) g.20204432G>T - RPS6KA3 T276K - RPS6KA3_000038 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD64 PubMed: Hu 2016 family, 1 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.846-6A>G likely benign r.(=) p.(=) Unknown g.20195208T>C - RPS6KA3(NM_004586.2):c.846-6A>G - RPS6KA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.913C>T pathogenic r.(?) p.(Arg305*) Unknown g.20195135G>A - - - RPS6KA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.932T>G pathogenic r.(?) p.(Leu311*) Unknown g.20195116A>C - RPS6KA3(NM_004586.2):c.932T>G - RPS6KA3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.935G>A likely pathogenic r.(?) p.(Gly312Asp) Unknown g.20194616C>T - RPS6KA3(NM_004586.2):c.935G>A (p.G312D) - RPS6KA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943C>A VUS r.(?) p.(Pro315Thr) Unknown g.20194608G>T - RPS6KA3(NM_004586.2):c.943C>A (p.P315T) - RPS6KA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.969del pathogenic r.(?) p.(Arg323Serfs*8) Unknown g.20194582del - - - RPS6KA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000-10del likely benign r.(=) p.(=) Unknown g.20194489del - RPS6KA3(NM_004586.2):c.1000-10delT - RPS6KA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1023T>C likely benign r.(?) p.(=) Unknown g.20194447A>G - RPS6KA3(NM_004586.2):c.1023T>C (p.H341=) - RPS6KA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080G>A benign r.(?) p.(=) Unknown g.20194390C>T - RPS6KA3(NM_004586.2):c.1080G>A (p.E360=) - RPS6KA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13i c.1103-2A>G Pathogenic r.spl p.? Unknown g.20193408T>C g.20175290T>C - - RPS6KA3_000034 - - - - De novo yes - - 0 - DNA SEQ, SEQ-NG-I blood - ID P25 - - F no China - >21y - - - 1 Wenjuan Qiu
-?/. - c.1187G>A likely benign r.(?) p.(Ser396Asn) Unknown g.20193322C>T - RPS6KA3(NM_004586.2):c.1187G>A (p.S396N) - RPS6KA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1198C>T pathogenic r.(?) p.(Gln400*) Unknown g.20193311G>A - - - RPS6KA3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1264T>G likely pathogenic r.(?) p.(Tyr422Asp) Unknown g.20190953A>C - RPS6KA3(NM_004586.2):c.1264T>G (p.Y422D) - RPS6KA3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1304_1307del - r.(?) p.(Val435Alafs*15) Unknown g.20190910_20190913del - - - RPS6KA3_000054 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs797045920 Germline - 1/2783 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1353G>A VUS r.(?) p.(=) Unknown g.20190864C>T - - - RPS6KA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1443+5G>A VUS r.spl? p.? Unknown g.20187515C>T - - - RPS6KA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1488G>A VUS r.(?) p.(Met496Ile) Unknown g.20185821C>T - RPS6KA3(NM_004586.2):c.1488G>A (p.(Met496Ile)) - RPS6KA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1578C>T likely benign r.(?) p.(=) Unknown g.20185731G>A - RPS6KA3(NM_004586.2):c.1578C>T (p.T526=) - RPS6KA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1630A>G - r.(?) p.(Asn544Asp) Maternal (confirmed) g.20183151T>C - RPS6KA3 N544D - RPS6KA3_000037 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamL60 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 3 Johan den Dunnen
+?/. - c.1630A>T likely pathogenic r.(?) p.(Asn544Tyr) Unknown g.20183151T>A - - - RPS6KA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1676T>A pathogenic r.(=) p.(Ile559Asn) Parent #1 g.20183105A>T g.20164987A>T - - RPS6KA3_000008 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.1703dup pathogenic r.(?) p.(Arg569Glufs*28) Parent #1 g.20183078dup g.20164960dup - - RPS6KA3_000005 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1742C>T likely pathogenic r.(?) p.(Thr581Ile) Unknown g.20183039G>A - - - RPS6KA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1765-1G>C pathogenic r.spl? p.? Unknown g.20181159C>G - - - RPS6KA3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1921_1922del pathogenic r.(?) p.(Ser641Trpfs*72) Unknown g.20179799_20179800del - RPS6KA3(NM_004586.2):c.1921_1922delAG (p.S641Wfs*72) - RPS6KA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2168G>A likely benign r.(?) p.(Arg723His) Unknown g.20173571C>T - RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2168G>A likely benign r.(?) p.(Arg723His) Unknown g.20173571C>T - RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2168G>A benign r.(?) p.(Arg723His) Unknown g.20173571C>T - RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2168G>A VUS r.(?) p.(Arg723His) Unknown g.20173571C>T - RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2168G>A likely benign r.(?) p.(Arg723His) Unknown g.20173571C>T - RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2168G>A - r.(?) p.(Arg723His) Parent #1 g.20173571C>T - R723H - RPS6KA3_000036 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2185C>A likely benign r.(?) p.(=) Unknown g.20173554G>T - RPS6KA3(NM_004586.2):c.2185C>A (p.R729=) - RPS6KA3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2185C>T pathogenic r.(?) p.(Arg729Trp) Unknown g.20173554G>A - RPS6KA3(NM_004586.2):c.2185C>T (p.R729W) - RPS6KA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend