Full data view for gene RBMX

Information The variants shown are described using the NM_002139.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-1C>A - - p.(=) Maternal (inferred) g.135961587G>T g.136879428G>T - - RBMX_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-1C>A - - p.(=) Maternal (inferred) g.135961587G>T g.136879428G>T - - RBMX_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-1del - - p.(=) Unknown g.135961587del g.136879428del - - RBMX_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.1dup benign r.? p.? Unknown g.135961586dup - RBMX(NM_002139.4):c.1dupA (p.M1?) - RBMX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>T likely benign r.(?) p.(=) Unknown g.135961209G>A - RBMX(NM_002139.4):c.183C>T (p.D61=) - RBMX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.216+184C>G - - p.(=) Maternal (inferred) g.135960992G>C g.136878833G>C - - RBMX_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.216+184C>G - - p.(=) Maternal (inferred) g.135960992G>C g.136878833G>C - - RBMX_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.315_316insTT - - p.(Pro106Phefs*32) Unknown g.135960146_135960147insAA g.136877987_136877988insAA - - RBMX_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.388+96C>T - - p.(=) Maternal (inferred) g.135959978G>A g.136877819G>A - - RBMX_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.388+96C>T - - p.(=) Maternal (inferred) g.135959978G>A g.136877819G>A - - RBMX_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.594G>A benign r.(?) p.(=) Unknown g.135957692C>T - RBMX(NM_001164803.1):c.269G>A (p.R90H) - RBMX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.706C>T VUS r.(?) p.(Pro236Ser) Unknown g.135957493G>A - - - RBMX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.866-1_866insATTCATATGAGAGTTACG VUS r.spl? p.? Unknown g.135956612_135956613insGTAACTCTCATATGAATC - RBMX(NM_002139.3):c.866-1_866insATTCATATGAGAGTTACG (p.(Asp283_Tyr288dup)) - RBMX_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905_906insCC - - p.(Ser303Hisfs*137) Unknown g.135956571_135956572insGG g.136874412_136874413insGG - - RBMX_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.971G>C - - p.(Arg324Pro) Unknown g.135956506C>G g.136874347C>G - - RBMX_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.975C>G VUS r.(?) p.(Asp325Glu) Unknown g.135956502G>C - RBMX(NM_002139.4):c.975C>G (p.D325E) - RBMX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.997G>T VUS r.(?) p.(Asp333Tyr) Unknown g.135956480C>A - RBMX(NM_001164803.1):c.540+765G>T (p.(=)) - RBMX_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1010G>A - - p.(Ser337Asn) Unknown g.135956467C>T g.136874308C>T - - RBMX_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1015C>G - - p.(Arg339Gly) Unknown g.135956462G>C g.136874303G>C - - RBMX_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1069T>C - - p.(Tyr357His) Unknown g.135956408A>G g.136874249A>G - - RBMX_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1107C>T - - p.(=) Unknown g.135956370G>A g.136874211G>A - - RBMX_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1129C>T - r.(?) p.(Arg377Cys) Parent #1 g.135956348G>A - - - RBMX_000025 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.1135G>C - - p.(Gly379Arg) Unknown g.135956342C>G g.136874183C>G - - RBMX_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*83C>T - - p.(=) Unknown g.135956218G>A g.136874059G>A - - RBMX_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1075dup - - p.(=) Unknown g.135955226dup g.136873067dup - - RBMX_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1815_*1817del VUS r.(=) p.(=) Unknown g.135954486_135954488del - RBMX(NM_001164803.1):c.559_561del (p.(Tyr187del)), RBMX(NM_001164803.1):c.559_561delTAT (p.Y187del) - RBMX_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1815_*1817del likely benign r.(=) p.(=) Unknown g.135954486_135954488del - RBMX(NM_001164803.1):c.559_561del (p.(Tyr187del)), RBMX(NM_001164803.1):c.559_561delTAT (p.Y187del) - RBMX_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1845T>C VUS r.(=) p.(=) Unknown g.135954456A>G - RBMX(NM_001164803.1):c.589T>C (p.*197Qext*12) - RBMX_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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