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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


41 records found for search term Hspbap1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155918357CV2236806single nucleotide variantNM_024610.6(HSPBAP1):c.37G>C (p.Val13Leu)not specified [RCV004112572]likely benign3122793644122793644Humanname
401874466CV2773982single nucleotide variantNM_024610.6(HSPBAP1):c.570G>A (p.Arg190=)not specified [RCV004358394]likely benign3122755431122755431Humanname
598256248CV3968308single nucleotide variantNM_024610.6(HSPBAP1):c.41C>T (p.Ala14Val)not specified [RCV005346732]uncertain significance3122793640122793640Humanname
156152068CV2194182single nucleotide variantNM_024610.6(HSPBAP1):c.172T>C (p.Trp58Arg)not specified [RCV004077266]uncertain significance3122777799122777799Humanname
156347182CV2297848single nucleotide variantNM_024610.6(HSPBAP1):c.146T>C (p.Met49Thr)not specified [RCV004157790]uncertain significance3122777825122777825Humanname
329398025CV2464705single nucleotide variantNM_024610.6(HSPBAP1):c.286G>A (p.Ala96Thr)not specified [RCV004284679]uncertain significance3122768847122768847Humanname
401879035CV2778108single nucleotide variantNM_024610.6(HSPBAP1):c.195G>C (p.Gln65His)not specified [RCV004348053]uncertain significance3122777776122777776Humanname
405803941CV3270490single nucleotide variantNM_024610.6(HSPBAP1):c.133A>G (p.Ile45Val)not specified [RCV004404739]likely benign3122777838122777838Humanname
405803942CV3270491single nucleotide variantNM_024610.6(HSPBAP1):c.242T>A (p.Met81Lys)not specified [RCV004404740]uncertain significance3122777729122777729Humanname
407465040CV3444146single nucleotide variantNM_024610.6(HSPBAP1):c.185A>G (p.Tyr62Cys)not specified [RCV004635259]uncertain significance3122777786122777786Humanname
597782831CV3686025single nucleotide variantNM_024610.6(HSPBAP1):c.101A>G (p.Lys34Arg)not specified [RCV004931260]uncertain significance3122777870122777870Humanname
617152337CV4020706single nucleotide variantNM_024610.6(HSPBAP1):c.1282T>C (p.Leu428=)not provided [RCV005427963]likely benign3122740530122740530Humanname
156389776CV2222718single nucleotide variantNM_024610.6(HSPBAP1):c.662A>T (p.Asn221Ile)not specified [RCV004101570]uncertain significance3122755339122755339Humanname
155907094CV2302149single nucleotide variantNM_024610.6(HSPBAP1):c.515C>T (p.Thr172Ile)not specified [RCV004159163]uncertain significance3122759278122759278Humanname
156350172CV2316154single nucleotide variantNM_024610.6(HSPBAP1):c.865C>T (p.Arg289Cys)not specified [RCV004174200]uncertain significance3122741074122741074Humanname
156263440CV2391704single nucleotide variantNM_024610.6(HSPBAP1):c.937G>A (p.Val313Ile)not specified [RCV004241859]uncertain significance3122740875122740875Humanname
156250710CV2394239single nucleotide variantNM_024610.6(HSPBAP1):c.671A>G (p.Asn224Ser)not specified [RCV004238474]uncertain significance3122755330122755330Humanname
329376816CV2428555single nucleotide variantNM_024610.6(HSPBAP1):c.331A>G (p.Ile111Val)not specified [RCV004253339]uncertain significance3122768802122768802Humanname
329394916CV2457727single nucleotide variantNM_024610.6(HSPBAP1):c.497G>T (p.Gly166Val)not specified [RCV004269567]uncertain significance3122759296122759296Humanname
401736275CV2703093single nucleotide variantNM_024610.6(HSPBAP1):c.479A>G (p.Glu160Gly)not specified [RCV004321389]uncertain significance3122759314122759314Humanname
401876471CV2767600single nucleotide variantNM_024610.6(HSPBAP1):c.845G>A (p.Arg282Gln)not specified [RCV004343745]uncertain significance3122741094122741094Humanname
401898927CV2792127single nucleotide variantNM_024610.6(HSPBAP1):c.688T>C (p.Phe230Leu)not specified [RCV004361348]uncertain significance3122755313122755313Humanname
405803944CV3270492single nucleotide variantNM_024610.6(HSPBAP1):c.454G>A (p.Gly152Arg)not specified [RCV004404741]uncertain significance3122759339122759339Humanname
405803946CV3270493single nucleotide variantNM_024610.6(HSPBAP1):c.500C>T (p.Ser167Phe)not specified [RCV004404742]uncertain significance3122759293122759293Humanname
407465043CV3444147single nucleotide variantNM_024610.6(HSPBAP1):c.412G>C (p.Asp138His)not specified [RCV004635260]uncertain significance3122768721122768721Humanname
597782823CV3686023single nucleotide variantNM_024610.6(HSPBAP1):c.329G>C (p.Ser110Thr)not specified [RCV004931258]uncertain significance3122768804122768804Humanname
597782827CV3686024single nucleotide variantNM_024610.6(HSPBAP1):c.866G>A (p.Arg289His)not specified [RCV004931259]uncertain significance3122741073122741073Humanname
597782836CV3686026single nucleotide variantNM_024610.6(HSPBAP1):c.874G>C (p.Val292Leu)not specified [RCV004931261]uncertain significance3122741065122741065Humanname
597782840CV3686027single nucleotide variantNM_024610.6(HSPBAP1):c.970T>C (p.Tyr324His)not specified [RCV004931262]uncertain significance3122740842122740842Humanname
598256253CV3968309single nucleotide variantNM_024610.6(HSPBAP1):c.980C>A (p.Ala327Glu)not specified [RCV005346733]uncertain significance3122740832122740832Humanname
156169125CV2266726single nucleotide variantNM_024610.6(HSPBAP1):c.1205C>T (p.Pro402Leu)not specified [RCV004137556]uncertain significance3122740607122740607Humanname
156285785CV2292023single nucleotide variantNM_024610.6(HSPBAP1):c.1019A>G (p.Glu340Gly)not specified [RCV004160307]uncertain significance3122740793122740793Humanname
156172820CV2337628single nucleotide variantNM_024610.6(HSPBAP1):c.1004G>A (p.Arg335His)not specified [RCV004181191]likely benign3122740808122740808Humanname
156145519CV2384007single nucleotide variantNM_024610.6(HSPBAP1):c.1064A>C (p.Lys355Thr)not specified [RCV004224980]uncertain significance3122740748122740748Humanname
401736831CV2699609single nucleotide variantNM_024610.6(HSPBAP1):c.1060A>G (p.Met354Val)not specified [RCV004299797]uncertain significance3122740752122740752Humanname
405803937CV3270488single nucleotide variantNM_024610.6(HSPBAP1):c.1043G>C (p.Arg348Thr)not specified [RCV004404737]uncertain significance3122740769122740769Humanname
405803939CV3270489single nucleotide variantNM_024610.6(HSPBAP1):c.1222G>C (p.Gly408Arg)not specified [RCV004404738]uncertain significance3122740590122740590Humanname
407465034CV3444145single nucleotide variantNM_024610.6(HSPBAP1):c.1255G>T (p.Asp419Tyr)not specified [RCV004635258]uncertain significance3122740557122740557Humanname
598256244CV3968307single nucleotide variantNM_024610.6(HSPBAP1):c.1407G>T (p.Leu469Phe)not specified [RCV005346731]uncertain significance3122740405122740405Humanname
598256256CV3968310single nucleotide variantNM_024610.6(HSPBAP1):c.1166G>T (p.Gly389Val)not specified [RCV005346734]uncertain significance3122740646122740646Humanname
598256259CV3968311single nucleotide variantNM_024610.6(HSPBAP1):c.1081G>C (p.Val361Leu)not specified [RCV005346735]uncertain significance3122740731122740731Humanname