Unique variants in gene RBMX

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

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 2 - c.-1C>A r.(?) p.(=) - VUS g.135961587G>T g.136879428G>T - - RBMX_000006 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-1del r.(?) p.(=) - VUS g.135961587del g.136879428del - - RBMX_000007 - - - - Germline - - - - - Yu Sun
-/. 1 - c.1dup r.(?) p.(Met1?) - benign g.135961586dup g.136879427dup RBMX(NM_002139.4):c.1dupA (p.M1?) - RBMX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.183C>T r.(?) p.(Asp61=) - likely benign g.135961209G>A g.136879050G>A RBMX(NM_002139.4):c.183C>T (p.D61=) - RBMX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.216+184C>G r.(=) p.(=) - VUS g.135960992G>C g.136878833G>C - - RBMX_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.315_316insTT r.(?) p.(Pro106Phefs*32) - VUS g.135960147_135960148insAA g.136877988_136877989insAA - - RBMX_000019 - - - - Germline - - - - - Yu Sun
?/. 2 - c.388+96C>T r.(=) p.(=) - VUS g.135959978G>A g.136877819G>A - - RBMX_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.434G>C r.(?) p.(Gly145Ala) - VUS g.135958769C>G - RBMX(NM_002139.4):c.434G>C (p.G145A) - RBMX_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.594G>A r.(?) p.(Pro198=) - benign g.135957692C>T g.136875533C>T RBMX(NM_001164803.1):c.269G>A (p.R90H) - RBMX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.706C>T r.(?) p.(Pro236Ser) - VUS g.135957493G>A g.136875334G>A - - RBMX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.866-1_866insATTCATATGAGAGTTACG r.spl? p.? - VUS g.135956612_135956613insGTAACTCTCATATGAATC g.136874453_136874454insGTAACTCTCATATGAATC RBMX(NM_002139.3):c.866-1_866insATTCATATGAGAGTTACG (p.(Asp283_Tyr288dup)) - RBMX_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.904_905dup r.(?) p.(Ser303Hisfs*137) - VUS g.135956572_135956573dup g.136874413_136874414dup - - RBMX_000018 - - - - Germline - - - - - Yu Sun
?/. 1 - c.971G>C r.(?) p.(Arg324Pro) - VUS g.135956506C>G g.136874347C>G - - RBMX_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.975C>G r.(?) p.(Asp325Glu) - VUS g.135956502G>C g.136874343G>C RBMX(NM_002139.4):c.975C>G (p.D325E) - RBMX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.997G>T r.(?) p.(Asp333Tyr) - VUS g.135956480C>A g.136874321C>A RBMX(NM_001164803.1):c.540+765G>T (p.(=)) - RBMX_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1010G>A r.(?) p.(Ser337Asn) - VUS g.135956467C>T g.136874308C>T - - RBMX_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1015C>G r.(?) p.(Arg339Gly) - VUS g.135956462G>C g.136874303G>C - - RBMX_000011 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1069T>C r.(?) p.(Tyr357His) - VUS g.135956408A>G g.136874249A>G - - RBMX_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1107C>T r.(?) p.(=) - VUS g.135956370G>A g.136874211G>A - - RBMX_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1129C>T r.(?) p.(Arg377Cys) - VUS g.135956348G>A g.136874189G>A - - RBMX_000025 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1135G>C r.(?) p.(Gly379Arg) - VUS g.135956342C>G g.136874183C>G - - RBMX_000014 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*83C>T r.(=) p.(=) - VUS g.135956218G>A g.136874059G>A - - RBMX_000016 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*1075dup - p.(=) - VUS g.135955226dup g.136873067dup - - RBMX_000015 - - - - Germline - - - - - Yu Sun
?/., -?/. 2 - c.*1815_*1817del r.(=) p.(=) - VUS, likely benign g.135954486_135954488del g.136872327_136872329del 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
?/. 1 - c.*1845T>C r.(=) p.(=) - VUS g.135954456A>G g.136872297A>G RBMX(NM_001164803.1):c.589T>C (p.*197Qext*12) - RBMX_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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