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


20 records found for search term Mrpl50
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
616933351CV4013750single nucleotide variantMRPL50, VAL112ASPnot provided [RCV005411253]uncertain significanceHumanname
407525213CV3450377single nucleotide variantNM_019051.3(MRPL50):c.49A>G (p.Thr17Ala)not specified [RCV004631661]uncertain significance9101398544101398544Humanname
597637991CV3557326single nucleotide variantNM_019051.3(MRPL50):c.67T>C (p.Cys23Arg)not specified [RCV004824839]likely benign9101398526101398526Humanname
156380269CV2218090single nucleotide variantNM_019051.3(MRPL50):c.208T>G (p.Leu70Val)not specified [RCV004086524]uncertain significance9101390735101390735Humanname
329362588CV2438947single nucleotide variantNM_019051.3(MRPL50):c.212A>T (p.Glu71Val)not specified [RCV004264463]uncertain significance9101390731101390731Humanname
329393080CV2449483single nucleotide variantNM_019051.3(MRPL50):c.206G>A (p.Arg69His)not specified [RCV004268425]uncertain significance9101390737101390737Humanname
405758369CV3367876single nucleotide variantNM_019051.3(MRPL50):c.229G>A (p.Val77Ile)not specified [RCV004500196]likely benign9101390714101390714Humanname
405758413CV3367882single nucleotide variantNM_019051.3(MRPL50):c.284G>A (p.Arg95His)not specified [RCV004500202]likely benign9101390659101390659Humanname
405758466CV3367889single nucleotide variantNM_019051.3(MRPL50):c.284G>C (p.Arg95Pro)not specified [RCV004500209]uncertain significance9101390659101390659Humanname
407474615CV3450375single nucleotide variantNM_019051.3(MRPL50):c.263A>T (p.Asp88Val)not specified [RCV004638199]uncertain significance9101390680101390680Humanname
407474619CV3450378single nucleotide variantNM_019051.3(MRPL50):c.296A>G (p.Asn99Ser)not specified [RCV004638200]likely benign9101390647101390647Humanname
407474628CV3450380single nucleotide variantNM_019051.3(MRPL50):c.218A>C (p.Tyr73Ser)not specified [RCV004638202]uncertain significance9101390725101390725Humanname
597634423CV3557325single nucleotide variantNM_019051.3(MRPL50):c.152T>C (p.Val51Ala)not specified [RCV004830917]uncertain significance9101390791101390791Humanname
598179025CV3993448single nucleotide variantNM_019051.3(MRPL50):c.125T>C (p.Val42Ala)not specified [RCV005371862]uncertain significance9101390818101390818Humanname
329954328CV1866804single nucleotide variantNM_019051.3(MRPL50):c.335T>A (p.Val112Asp)See cases [RCV003234801]likely pathogenic9101390608101390608Humanname
156136083CV2257046single nucleotide variantNM_019051.3(MRPL50):c.458A>C (p.Lys153Thr)not specified [RCV004123016]uncertain significance9101390485101390485Humanname
155925107CV2277243single nucleotide variantNM_019051.3(MRPL50):c.443T>C (p.Leu148Pro)not specified [RCV004142865]uncertain significance9101390500101390500Humanname
401877452CV2769460single nucleotide variantNM_019051.3(MRPL50):c.362G>A (p.Cys121Tyr)not specified [RCV004357436]uncertain significance9101390581101390581Humanname
401899166CV2783718single nucleotide variantNM_019051.3(MRPL50):c.410G>A (p.Arg137Lys)not specified [RCV004360638]uncertain significance9101390533101390533Humanname
407474623CV3450379single nucleotide variantNM_019051.3(MRPL50):c.307C>T (p.His103Tyr)not specified [RCV004638201]uncertain significance9101390636101390636Humanname