Mrpl49 Variant Search Result - Rat Genome Database

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22 records found for search term Mrpl49

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
616933357	CV4013748	single nucleotide variant	MRPL49, ARG88HIS (rs1565337413)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 [RCV005411251]	pathogenic				Human	1	name
598213108	CV3993446	single nucleotide variant	NM_004927.4(MRPL49):c.11C>T (p.Thr4Ile)	not specified [RCV005378286]	uncertain significance	11	65122357	65122357	Human		name
329387135	CV2463369	single nucleotide variant	NM_004927.4(MRPL49):c.89A>G (p.Gln30Arg)	not specified [RCV004277210]	uncertain significance	11	65124512	65124512	Human		name
405758276	CV3367862	single nucleotide variant	NM_004927.4(MRPL49):c.71G>A (p.Arg24Gln)	not specified [RCV004500182]	uncertain significance	11	65122417	65122417	Human		name
597634009	CV3557322	single nucleotide variant	NM_004927.4(MRPL49):c.53A>C (p.Gln18Pro)	not specified [RCV004830914]	uncertain significance	11	65122399	65122399	Human		name
597634435	CV3557323	single nucleotide variant	NM_004927.4(MRPL49):c.54G>T (p.Gln18His)	not specified [RCV004830915]	uncertain significance	11	65122400	65122400	Human		name
598213113	CV3993447	single nucleotide variant	NM_004927.4(MRPL49):c.83A>G (p.Gln28Arg)	not specified [RCV005378287]	uncertain significance	11	65124506	65124506	Human		name
155949381	CV2267633	single nucleotide variant	NM_004927.4(MRPL49):c.292A>G (p.Lys98Glu)	not specified [RCV004134184]	uncertain significance	11	65125550	65125550	Human		name
401775716	CV2692472	single nucleotide variant	NM_004927.4(MRPL49):c.273G>C (p.Met91Ile)	not specified [RCV004312227]	uncertain significance	11	65125531	65125531	Human		name
407478721	CV2852746	single nucleotide variant	NM_004927.4(MRPL49):c.262C>T (p.Arg88Cys)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 [RCV005410960]\|Perrault syndrome 1 [RCV004597574]	pathogenic\|likely pathogenic	11	65125520	65125520	Human	2	name
407478717	CV2852747	single nucleotide variant	NM_004927.4(MRPL49):c.263G>A (p.Arg88His)	Perrault syndrome 1 [RCV004597575]	likely pathogenic	11	65125521	65125521	Human	1	name
407478714	CV2852748	single nucleotide variant	NM_004927.4(MRPL49):c.275A>C (p.His92Pro)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 [RCV005410961]\|Perrault syndrome 1 [RCV004597576]	pathogenic\|likely pathogenic	11	65125533	65125533	Human	2	name
405758004	CV3367824	single nucleotide variant	NM_004927.4(MRPL49):c.266C>G (p.Ser89Cys)	not specified [RCV004500144]	uncertain significance	11	65125524	65125524	Human		name
405758057	CV3367831	single nucleotide variant	NM_004927.4(MRPL49):c.268C>T (p.Arg90Trp)	not specified [RCV004500151]	uncertain significance	11	65125526	65125526	Human		name
405758171	CV3367847	single nucleotide variant	NM_004927.4(MRPL49):c.280A>G (p.Ile94Val)	not specified [RCV004500167]	likely benign	11	65125538	65125538	Human		name
597634317	CV3557320	single nucleotide variant	NM_004927.4(MRPL49):c.124G>C (p.Val42Leu)	not specified [RCV004830912]	uncertain significance	11	65124547	65124547	Human		name
156106498	CV2257283	single nucleotide variant	NM_004927.4(MRPL49):c.298A>G (p.Ile100Val)	not specified [RCV004125391]	uncertain significance	11	65125556	65125556	Human		name
401725836	CV2687296	single nucleotide variant	NM_004927.4(MRPL49):c.302C>T (p.Thr101Met)	not specified [RCV004298230]	uncertain significance	11	65125560	65125560	Human		name
407474611	CV3450374	single nucleotide variant	NM_004927.4(MRPL49):c.389C>T (p.Pro130Leu)	not specified [RCV004638198]	uncertain significance	11	65125760	65125760	Human		name
597634322	CV3557319	single nucleotide variant	NM_004927.4(MRPL49):c.305A>C (p.His102Pro)	not specified [RCV004830911]	uncertain significance	11	65125563	65125563	Human		name
597634140	CV3557321	single nucleotide variant	NM_004927.4(MRPL49):c.332G>A (p.Arg111Gln)	not specified [RCV004830913]	uncertain significance	11	65125590	65125590	Human		name
407478710	CV2852749	microsatellite	NM_004927.4(MRPL49):c.125_126del (p.Val42fs)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 [RCV005410962]\|Perrault syndrome 1 [RCV004597577]	pathogenic\|likely pathogenic	11	65124546	65124547	Human		name

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