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Pathways
Variants search result for All species
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11 records found for search term Psmc1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9686917CV171555single nucleotide variantNM_002802.3(PSMC1):c.279+8G>AProstate cancer [RCV000149136]uncertain significance149026345090263450Human2name
15168996CV703015single nucleotide variantNM_002802.3(PSMC1):c.231A>G (p.Glu77=)not provided [RCV000949373]benign|likely benign149026339490263394Humanname
150551236CV1292583single nucleotide variantNM_002802.3(PSMC1):c.345C>T (p.Ile115=)not provided [RCV001754190]benign149026372790263727Humanname
598170753CV3908142single nucleotide variantNM_002802.3(PSMC1):c.263T>C (p.Leu88Ser)not specified [RCV005263182]uncertain significance149026342690263426Humanname
155642619CV1708733single nucleotide variantNM_002802.3(PSMC1):c.983T>C (p.Ile328Thr)Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss [RCV002291329]pathogenic149026949890269498Human1name
155992162CV2281176single nucleotide variantNM_002802.3(PSMC1):c.703T>A (p.Leu235Ile)not specified [RCV004147430]uncertain significance149026823590268235Humanname
405662055CV3378534single nucleotide variantNM_002802.3(PSMC1):c.595G>C (p.Glu199Gln)not specified [RCV004513308]uncertain significance149026507090265070Humanname
156132275CV2235307single nucleotide variantNM_002802.3(PSMC1):c.1057T>C (p.Phe353Leu)not specified [RCV004107340]uncertain significance149027022190270221Humanname
597749932CV3592033single nucleotide variantNM_002802.3(PSMC1):c.1268A>G (p.Lys423Arg)not specified [RCV004846325]uncertain significance149027235290272352Humanname
597749937CV3592034single nucleotide variantNM_002802.3(PSMC1):c.1204G>A (p.Ala402Thr)not specified [RCV004846326]uncertain significance149027228890272288Humanname
598170748CV3908141single nucleotide variantNM_002802.3(PSMC1):c.1042G>A (p.Asp348Asn)not specified [RCV005263181]uncertain significance149027020690270206Humanname