Ptrh2 Variant Search Result - Rat Genome Database

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42 records found for search term Ptrh2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596945547	CV3547869	single nucleotide variant	NM_016077.5(PTRH2):c.1-4T>C	not provided [RCV004809200]	uncertain significance	17	59697982	59697982	Human		name
12846218	CV375402	single nucleotide variant	NM_016077.5(PTRH2):c.-17G>A	not specified [RCV000441229]	likely benign	17	59707387	59707387	Human		name
12839975	CV376279	single nucleotide variant	NM_016077.5(PTRH2):c.-37G>A	not specified [RCV000429812]	likely benign	17	59707407	59707407	Human		name
13531029	CV506069	single nucleotide variant	NM_016077.5(PTRH2):c.-16A>G	not specified [RCV000606335]	likely benign	17	59707386	59707386	Human		name
13538045	CV506072	single nucleotide variant	NM_016077.5(PTRH2):c.-25C>T	not specified [RCV000611265]	likely benign	17	59707395	59707395	Human		name
13527041	CV506263	single nucleotide variant	NM_016077.5(PTRH2):c.-18G>A	not specified [RCV000604931]	likely benign	17	59707388	59707388	Human		name
13538525	CV506267	single nucleotide variant	NM_016077.5(PTRH2):c.-41A>G	not specified [RCV000611960]	likely benign	17	59707411	59707411	Human		name
13531807	CV506618	single nucleotide variant	NM_016077.5(PTRH2):c.-33G>A	not specified [RCV000601167]	likely benign	17	59707403	59707403	Human		name
153000281	CV1683652	single nucleotide variant	NM_016077.5(PTRH2):c.1-124A>G	not provided [RCV002254107]	likely benign	17	59698102	59698102	Human		name
12841019	CV375397	single nucleotide variant	NM_016077.5(PTRH2):c.51C>T (p.Leu17=)	PTRH2-related disorder [RCV003959963]\|not provided [RCV004705573]\|not specified [RCV000431834]	likely benign	17	59697928	59697928	Human	1	name , trait , alternate_id
405295052	CV3210985	single nucleotide variant	NM_016077.5(PTRH2):c.186C>T (p.Ser62=)	PTRH2-related disorder [RCV003936991]	likely benign	17	59697793	59697793	Human		name , trait , alternate_id
12847388	CV378574	single nucleotide variant	NM_016077.5(PTRH2):c.168A>G (p.Ala56=)	not provided [RCV000967457]\|not specified [RCV000443400]	benign\|likely benign	17	59697811	59697811	Human		name
13541145	CV506261	single nucleotide variant	NM_016077.5(PTRH2):c.240G>C (p.Gly80=)	not specified [RCV000615740]	likely benign	17	59697739	59697739	Human		name
126753201	CV1035905	duplication	NM_016077.5(PTRH2):c.127dup (p.Ser43fs)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV001799762]\|not provided [RCV002282527]	pathogenic\|likely pathogenic	17	59697851	59697852	Human	1	name
155907934	CV2354527	single nucleotide variant	NM_016077.5(PTRH2):c.49C>T (p.Leu17Phe)	Inborn genetic diseases [RCV002990786]	uncertain significance	17	59697930	59697930	Human	1	name
156102850	CV2363233	single nucleotide variant	NM_016077.5(PTRH2):c.89G>A (p.Gly30Asp)	Inborn genetic diseases [RCV002662089]	uncertain significance	17	59697890	59697890	Human	1	name
407473359	CV3464743	single nucleotide variant	NM_016077.5(PTRH2):c.52G>A (p.Gly18Ser)	Inborn genetic diseases [RCV004662725]	likely benign	17	59697927	59697927	Human	1	name
598123368	CV3884916	single nucleotide variant	NM_016077.5(PTRH2):c.321A>G (p.Gln107=)	not specified [RCV005238525]	likely benign	17	59697658	59697658	Human		name
598250592	CV3901837	single nucleotide variant	NM_016077.5(PTRH2):c.52G>T (p.Gly18Cys)	Inborn genetic diseases [RCV005259080]	uncertain significance	17	59697927	59697927	Human	1	name
616933204	CV4012825	single nucleotide variant	NM_016077.5(PTRH2):c.92G>A (p.Trp31Ter)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV005410288]	likely pathogenic	17	59697887	59697887	Human	1	name
617151012	CV4021912	single nucleotide variant	NM_016077.5(PTRH2):c.339G>A (p.Gln113=)	not provided [RCV005426873]	likely benign	17	59697640	59697640	Human		name
13525213	CV506067	single nucleotide variant	NM_016077.5(PTRH2):c.61G>A (p.Val21Ile)	PTRH2-related disorder [RCV003917961]\|not provided [RCV000951144]	benign\|likely benign	17	59697918	59697918	Human	1	name , trait , alternate_id
13611860	CV514729	duplication	NM_016077.5(PTRH2):c.111dup (p.Gly38fs)	not provided [RCV000627590]	likely pathogenic	17	59697867	59697868	Human		name
126728628	CV984252	single nucleotide variant	NM_016077.5(PTRH2):c.68T>C (p.Val23Ala)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset [RCV001293457]	likely pathogenic	17	59697911	59697911	Human	1	name
9850377	CV181454	single nucleotide variant	NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)	Cerebellar ataxia [RCV000162156]\|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV001799627]\|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset [RCV000162247]	pathogenic\|likely pathogenic	17	59697725	59697725	Human	6	name
329848707	CV2523455	single nucleotide variant	NM_016077.5(PTRH2):c.242A>G (p.Lys81Arg)	not provided [RCV003225469]	uncertain significance	17	59697737	59697737	Human		name
401721946	CV2735618	duplication	NM_016077.5(PTRH2):c.535dup (p.Tyr179fs)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV003311590]	uncertain significance	17	59697443	59697444	Human	1	name
401961060	CV2844464	single nucleotide variant	NM_016077.5(PTRH2):c.173T>C (p.Ile58Thr)	not provided [RCV003480259]	uncertain significance	17	59697806	59697806	Human		name
405658103	CV3315077	single nucleotide variant	NM_016077.5(PTRH2):c.149C>T (p.Thr50Ile)	Inborn genetic diseases [RCV004438078]	uncertain significance	17	59697830	59697830	Human	1	name
597706301	CV3582195	single nucleotide variant	NM_016077.5(PTRH2):c.215G>A (p.Arg72Gln)	Inborn genetic diseases [RCV004957357]	uncertain significance	17	59697764	59697764	Human	1	name
597706306	CV3582196	single nucleotide variant	NM_016077.5(PTRH2):c.277G>A (p.Ala93Thr)	Inborn genetic diseases [RCV004957358]	uncertain significance	17	59697702	59697702	Human	1	name
598250597	CV3901838	single nucleotide variant	NM_016077.5(PTRH2):c.118C>T (p.Leu40Phe)	Inborn genetic diseases [RCV005259081]	uncertain significance	17	59697861	59697861	Human	1	name
13489327	CV445841	single nucleotide variant	NM_016077.5(PTRH2):c.253C>T (p.Gln85Ter)	not provided [RCV000523852]	likely pathogenic	17	59697726	59697726	Human		name
14746820	CV672103	single nucleotide variant	NM_016077.5(PTRH2):c.101G>A (p.Arg34Gln)	Inborn genetic diseases [RCV003279124]\|not provided [RCV000845063]	uncertain significance\|not provided	17	59697878	59697878	Human	1	name
156291666	CV2246461	single nucleotide variant	NM_016077.5(PTRH2):c.535T>C (p.Tyr179His)	Inborn genetic diseases [RCV002807388]	uncertain significance	17	59697444	59697444	Human	1	name
156261387	CV2322371	single nucleotide variant	NM_016077.5(PTRH2):c.443G>T (p.Arg148Leu)	Inborn genetic diseases [RCV002959770]	uncertain significance	17	59697536	59697536	Human	1	name
401890908	CV2768804	single nucleotide variant	NM_016077.5(PTRH2):c.449A>T (p.Gln150Leu)	Inborn genetic diseases [RCV003369176]	uncertain significance	17	59697530	59697530	Human	1	name
405658106	CV3315078	single nucleotide variant	NM_016077.5(PTRH2):c.356A>G (p.Lys119Arg)	Inborn genetic diseases [RCV004438079]	uncertain significance	17	59697623	59697623	Human	1	name
405658110	CV3315079	single nucleotide variant	NM_016077.5(PTRH2):c.442C>T (p.Arg148Cys)	Inborn genetic diseases [RCV004438080]	uncertain significance	17	59697537	59697537	Human	1	name
15098715	CV683214	single nucleotide variant	NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV001799712]\|not provided [RCV002508790]	pathogenic\|likely pathogenic	17	59697655	59697655	Human	1	name
9850379	CV181534	deletion	NM_016077.5(PTRH2):c.269_270del (p.Ala90fs)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV001799628]\|not provided [RCV001726013]	pathogenic\|not provided	17	59697709	59697710	Human	1	name
156205270	CV2401481	deletion	NM_016077.5(PTRH2):c.515_516del (p.Val172fs)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 [RCV002790019]	uncertain significance	17	59697463	59697464	Human	1	name

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