Aicardi-Goutieres Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AGS3 MCID: ACR088 MIFTS: 39	Aicardi-Goutieres Syndrome 3 (AGS3) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Aicardi-Goutieres Syndrome 3

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 3:

Name: Aicardi-Goutieres Syndrome 3 ⁵⁶ ⁷³ ¹³ ⁷¹

Aicardi Goutieres Syndrome 3 ²⁹ ⁶

Pseudo-Torch Syndrome ⁷³ ⁷¹

Ags3 ⁵⁶ ⁷³

Aicardi-Goutieres Syndrome, Type 3 ³⁹

Aicardi-Goutieres Syndrome 1 ⁷¹

Cree Encephalitis ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
one patient with normal psychomotor development has been reported

HPO:

³¹

aicardi-goutieres syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive
Clinical modifier death in childhood

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Immune diseases Bone diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 610329

OMIM Phenotypic Series ⁵⁶ PS225750

MeSH ⁴³ D009421 D020274

MedGen ⁴¹ C1835916

UMLS ⁷¹ C0796126 C1835916 C3489725

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Summaries for Aicardi-Goutieres Syndrome 3

OMIM : ⁵⁶ Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (610329)

MalaCards based summary : Aicardi-Goutieres Syndrome 3, also known as aicardi goutieres syndrome 3, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 2, and has symptoms including seizures, muscle spasticity and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome 3 is RNASEH2C (Ribonuclease H2 Subunit C). Affiliated tissues include brain, eye and skin, and related phenotypes are spasticity and nystagmus

UniProtKB/Swiss-Prot : ⁷³ Aicardi-Goutieres syndrome 3: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

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Related Diseases for Aicardi-Goutieres Syndrome 3

Diseases in the Aicardi-Goutieres Syndrome family:

Aicardi-Goutieres Syndrome 1	Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 3	Aicardi-Goutieres Syndrome 4
Aicardi-Goutieres Syndrome 5	Aicardi-Goutieres Syndrome 6
Aicardi-Goutieres Syndrome 7

Diseases related to Aicardi-Goutieres Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)

#	Related Disease	Score	Top Affiliating Genes
1	aicardi-goutieres syndrome	31.8	RNASEH2C KAT5
2	pseudo-torch syndrome 2	13.0
3	pseudo-torch syndrome 3	12.6
4	aicardi-goutieres syndrome 1	12.3
5	hoyeraal hreidarsson syndrome	11.9
6	aicardi-goutieres syndrome 2	11.4
7	aicardi-goutieres syndrome 4	11.4
8	aicardi-goutieres syndrome 5	11.4
9	aicardi-goutieres syndrome 6	11.4
10	microcephaly	10.5
11	pertussis	10.3
12	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.3
13	cerebellar hypoplasia	10.3
14	rubella	10.3
15	toxoplasmosis	10.3
16	polymicrogyria	10.3
17	spasticity	10.3
18	myeloma, multiple	10.2
19	aspergillosis	10.2
20	opioid addiction	10.2
21	brain injury	10.2
22	traumatic brain injury	10.2
23	dandy-walker syndrome	10.1
24	dyskeratosis congenita, x-linked	10.1
25	mumps	10.1
26	hydrocephalus	10.1
27	thrombocytopenia	10.1
28	neonatal jaundice	10.1
29	bilirubin metabolic disorder	10.1
30	syphilis	10.1
31	herpes simplex	10.1
32	chickenpox	10.1
33	diabetes insipidus	10.1
34	cerebral atrophy	10.1
35	seizure disorder	10.1
36	type 1 interferonopathy	10.1
37	pseudo-torch syndrome 1	10.1
38	encephalitis	10.1
39	congenital intrauterine infection-like syndrome	10.1
40	torch syndrome	10.1
41	encephalopathy	10.1

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 3:

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Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 3

Human phenotypes related to Aicardi-Goutieres Syndrome 3:

³¹ (show all 16)

#	Description	HPO Source Accession
1	spasticity ³¹	HP:0001257
2	nystagmus ³¹	HP:0000639
3	hyperreflexia ³¹	HP:0001347
4	elevated hepatic transaminase ³¹	HP:0002910
5	thrombocytopenia ³¹	HP:0001873
6	dystonia ³¹	HP:0001332
7	severe global developmental delay ³¹	HP:0011344
8	cerebral calcification ³¹	HP:0002514
9	hypoplasia of the corpus callosum ³¹	HP:0002079
10	encephalopathy ³¹	HP:0001298
11	generalized hypotonia ³¹	HP:0001290
12	hepatosplenomegaly ³¹	HP:0001433
13	delayed myelination ³¹	HP:0012448
14	progressive microcephaly ³¹	HP:0000253
15	csf lymphocytic pleiocytosis ³¹	HP:0200149
16	chilblains ³¹	HP:0009710

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
hyperreflexia
encephalopathy
delayed myelination
intracranial calcifications
thin corpus callosum
more

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus
roving eye movements
visual inattention

Skin Nails Hair Skin:
chilblains

Laboratory Abnormalities:
increased csf alpha-interferon
csf lymphocytosis
increased serum alpha-interferon

Clinical features from OMIM:

610329

UMLS symptoms related to Aicardi-Goutieres Syndrome 3:

seizures, muscle spasticity, petechiae of skin

GenomeRNAi Phenotypes related to Aicardi-Goutieres Syndrome 3 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased homologous recombination repair frequency	GR00236-A-1	9.26	KAT5 RNASEH2C
2	Decreased homologous recombination repair frequency	GR00236-A-2	9.26	KAT5 RNASEH2C
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	8.8	RNASEH2C
4	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	8.8	KAT5 RNASEH2C

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Drugs & Therapeutics for Aicardi-Goutieres Syndrome 3

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 3

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Genetic Tests for Aicardi-Goutieres Syndrome 3

Genetic tests related to Aicardi-Goutieres Syndrome 3:

#	Genetic test	Affiliating Genes
1	Aicardi Goutieres Syndrome 3 ²⁹	RNASEH2C

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Anatomical Context for Aicardi-Goutieres Syndrome 3

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 3:

⁴⁰

Brain, Eye, Skin, Kidney, Cortex, Heart, Lung

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Publications for Aicardi-Goutieres Syndrome 3

Articles related to Aicardi-Goutieres Syndrome 3:

(show top 50) (show all 107)

#	Title	Authors	PMID	Year
1	Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. ⁶ ⁵⁶	Vogt J...Oley C	23322642	2013
2	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. ⁶ ⁵⁶	Crow YJ...Jackson AP	16845400	2006
3	Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ⁶	Rice G...Crow YJ	17846997	2007
4	Aicardi-Goutières Syndrome ⁶	Crow YJ	20301648	2005
5	RGS4 controls Gαi3-mediated regulation of Bcl-2 phosphorylation on TGN38-containing intracellular membranes. ⁶¹	Bastin G...Heximer SP	32501280	2020
6	Calcineurin signaling pathway influences Aspergillus niger biofilm formation by affecting hydrophobicity and cell wall integrity. ⁶¹	Liu L...Chen Y	32190119	2020
7	Activator of G protein signaling 3 modulates prostate tumor development and progression. ⁶¹	Adekoya TO...Richardson RM	31215992	2019
8	Role of G-proteins and phosphorylation in the distribution of AGS3 to cell puncta. ⁶¹	Vural A...Lanier SM	30404823	2018
9	A Residue outside the Binding Site Determines the Gα Binding Specificity of GoLoco Motifs. ⁶¹	Liu C...Wang W	30406994	2018
10	Urinary exosomal expression of activator of G protein signaling 3 in polycystic kidney disease. ⁶¹	Keri KC...Park F	29880041	2018
11	Loss of the canonical spindle orientation function in the Pins/LGN homolog AGS3. ⁶¹	Saadaoui M...Morin X	28684399	2017
12	Ric-8A, an activator protein of Gαi, controls mammalian epithelial cell polarity for tight junction assembly and cystogenesis. ⁶¹	Chishiki K...Sumimoto H	28185378	2017
13	Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. ⁶¹	Livingston JH...Crow YJ	27643693	2016
14	Regulation of Airway Inflammation by G-protein Regulatory Motif Peptides of AGS3 protein. ⁶¹	Choi IW...Song KS	27270970	2016
15	Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o. ⁶¹	Jeon JP...Zhu MX	26987813	2016
16	In vitro mitomycin C absorption and delivery with different sponge materials used in filtering surgery. ⁶¹	Urbaneja D...Anton A	27143843	2016
17	Activator of G-Protein Signaling 3-Induced Lysosomal Biogenesis Limits Macrophage Intracellular Bacterial Infection. ⁶¹	Vural A...Kehrl JH	26667172	2016
18	XAS Investigation of Silver(I) Coordination in Copper(I) Biological Binding Sites. ⁶¹	Veronesi G...Michaud-Soret I	26632864	2015
19	Activator of G-protein Signaling 3 Controls Renal Epithelial Cell Survival and ERK5 Activation. ⁶¹	Rasmussen SA...Park F	27096004	2015
20	Direct Coupling of a Seven-Transmembrane-Span Receptor to a Gαi G-Protein Regulatory Motif Complex. ⁶¹	Robichaux WG...Blumer JB	25972449	2015
21	Overexpression of activator of G-protein signaling 3 decreases the proliferation of esophageal squamous cell carcinoma. ⁶¹	Shi H...Wang Y	25812748	2015
22	AGS3 is involved in TNF-α medicated osteogenic differentiation of human dental pulp stem cells. ⁶¹	Xing J...Feng X	26143356	2015
23	Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. ⁶¹	Lenarczyk M...Park F	25533045	2015
24	Activator of G protein signaling 3 forms a complex with resistance to inhibitors of cholinesterase-8A without promoting nucleotide exchange on Gα(i3). ⁶¹	Tse MK...Wong YH	25480567	2015
25	Gαi3-Dependent Inhibition of JNK Activity on Intracellular Membranes. ⁶¹	Bastin G...Heximer SP	26389115	2015
26	Development of inhibitors of heterotrimeric Gαi subunits. ⁶¹	Appleton KM...Peterson YK	24818958	2014
27	Implications of non-canonical G-protein signaling for the immune system. ⁶¹	Boularan C...Kehrl JH	24583286	2014
28	Defective chemokine signal integration in leukocytes lacking activator of G protein signaling 3 (AGS3). ⁶¹	Branham-O'Connor M...Blumer JB	24573680	2014
29	G Protein-coupled receptor kinase-6 interacts with activator of G protein signaling-3 to regulate CXCR2-mediated cellular functions. ⁶¹	Singh V...Richardson RM	24510965	2014
30	A role for activator of G-protein signaling 3 (AGS3) in multiple myeloma. ⁶¹	Shao S...Wang C	24307516	2014
31	The cell polarity protein mInsc regulates neutrophil chemotaxis via a noncanonical G protein signaling pathway. ⁶¹	Kamakura S...Sumimoto H	23891662	2013
32	Translocation of activator of G-protein signaling 3 to the Golgi apparatus in response to receptor activation and its effect on the trans-Golgi network. ⁶¹	Oner SS...Lanier SM	23770668	2013
33	IGF-1 activates a cilium-localized noncanonical Gβγ signaling pathway that regulates cell-cycle progression. ⁶¹	Yeh C...Sung CH	23954591	2013
34	Differential effects of AGS3 expression on D(2L) dopamine receptor-mediated adenylyl cyclase signaling. ⁶¹	Conley JM...Watts VJ	23504261	2013
35	Increased expression of AGS3 in rat brain cortex after traumatic brain injury. ⁶¹	Wang W...Cui G	23404409	2013
36	Silver(I) complex formation with cysteine, penicillamine, and glutathione. ⁶¹	Leung BO...Wu Q	23556419	2013
37	Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. ⁶¹	Oner SS...Lanier SM	23212907	2013
38	Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatus. ⁶¹	Beauvais A...Latge JP	24244155	2013
39	Normal autophagic activity in macrophages from mice lacking Gαi3, AGS3, or RGS19. ⁶¹	Vural A...Kehrl JH	24312373	2013
40	N-Acetyl-cysteine causes analgesia by reinforcing the endogenous activation of type-2 metabotropic glutamate receptors. ⁶¹	Bernabucci M...Nicoletti F	23088864	2012
41	The G-protein regulator LGN modulates the activity of the NO receptor soluble guanylate cyclase. ⁶¹	Chauhan S...Martin E	22690686	2012
42	α1,3 glucans are dispensable in Aspergillus fumigatus. ⁶¹	Henry C...Beauvais A	22058140	2012
43	Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). ⁶¹	Yuzawa S...Sumimoto H	22074847	2011
44	Dynamic localization of C. elegans TPR-GoLoco proteins mediates mitotic spindle orientation by extrinsic signaling. ⁶¹	Werts AD...Goldstein B	21903670	2011
45	Loss of activator of G-protein signaling 3 impairs renal tubular regeneration following acute kidney injury in rodents. ⁶¹	Regner KR...Park F	21343176	2011
46	A GDI (AGS3) and a GEF (GIV) regulate autophagy by balancing G protein activity and growth factor signals. ⁶¹	Garcia-Marcos M...Ghosh P	21209316	2011
47	Asymmetric cell divisions promote Notch-dependent epidermal differentiation. ⁶¹	Williams SE...Fuchs E	21331036	2011
48	Regulation of the AGS3·G{alpha}i signaling complex by a seven-transmembrane span receptor. ⁶¹	Oner SS...Lanier SM	20716524	2010
49	Activators of G-protein signaling 3: a drug addiction molecular gateway. ⁶¹	Bowers MS	20700046	2010
50	Activator of G protein signaling 3 promotes epithelial cell proliferation in PKD. ⁶¹	Nadella R...Park F	20488951	2010

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Genes for Aicardi-Goutieres Syndrome 3

Genes related to Aicardi-Goutieres Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RNASEH2C	Ribonuclease H2 Subunit C	Protein Coding	1341.05	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Summaries Variants (show sections)	23322642 17846997 16845400 (more) 20301648
2	KAT5	Lysine Acetyltransferase 5	Protein Coding	9.41	GeneCards inferred via : Variants (show sections)

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Variations for Aicardi-Goutieres Syndrome 3

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 3:

⁶ (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RNASEH2C	NM_032193.3(RNASEH2C):c.428A>T (p.Lys143Ile)	SNV	Pathogenic	1261	rs75146158	11:65487556-65487556	11:65720085-65720085
2	RNASEH2C	NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp)	SNV	Pathogenic/Likely pathogenic	1260	rs78635798	11:65487856-65487856	11:65720385-65720385
3	RNASEH2C	NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs)	duplication	Likely pathogenic	203392	rs772940104	11:65487882-65487883	11:65720411-65720412
4	RNASEH2C	NM_032193.3(RNASEH2C):c.468+8G>A	SNV	Conflicting interpretations of pathogenicity	305359	rs751767695	11:65487508-65487508	11:65720037-65720037
5	RNASEH2C	NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=)	SNV	Conflicting interpretations of pathogenicity	305361	rs147021687	11:65487567-65487567	11:65720096-65720096
6	RNASEH2C	NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=)	SNV	Conflicting interpretations of pathogenicity	374648	rs61736590	11:65487516-65487516	11:65720045-65720045
7	RNASEH2C	NM_182710.3(KAT5):c.*61G>A	SNV	Uncertain significance	305347	rs756513194	11:65486713-65486713	11:65719242-65719242
8	RNASEH2C	NM_182710.3(KAT5):c.*217G>T	SNV	Uncertain significance	305352	rs757672652	11:65486869-65486869	11:65719398-65719398
9	RNASEH2C	NM_182710.3(KAT5):c.*239G>A	SNV	Uncertain significance	305353	rs547082810	11:65486891-65486891	11:65719420-65719420
10	RNASEH2C	NM_032193.3(RNASEH2C):c.348+6C>T	SNV	Uncertain significance	305362	rs779293116	11:65487707-65487707	11:65720236-65720236
11	RNASEH2C	NM_182710.3(KAT5):c.1265-784G>A	SNV	Uncertain significance	305323	rs886048482	11:65485277-65485277	11:65717806-65717806
12	RNASEH2C	NM_182710.3(KAT5):c.1265-544G>A	SNV	Uncertain significance	305330	rs886048487	11:65485517-65485517	11:65718046-65718046
13	RNASEH2C	NM_182710.3(KAT5):c.1524A>C (p.Thr508=)	SNV	Uncertain significance	305343	rs886048492	11:65486535-65486535	11:65719064-65719064
14	RNASEH2C	NM_182710.3(KAT5):c.1537A>T (p.Ile513Phe)	SNV	Uncertain significance	305344	rs886048493	11:65486548-65486548	11:65719077-65719077
15	RNASEH2C	NM_182710.3(KAT5):c.*70G>C	SNV	Uncertain significance	305348	rs886048495	11:65486722-65486722	11:65719251-65719251
16	RNASEH2C	NM_182710.3(KAT5):c.*151G>A	SNV	Uncertain significance	305350	rs886048496	11:65486803-65486803	11:65719332-65719332
17	RNASEH2C	NM_182710.3(KAT5):c.*379C>T	SNV	Uncertain significance	305354	rs886048497	11:65487031-65487031	11:65719560-65719560
18	RNASEH2C	NM_182710.3(KAT5):c.1265-638C>T	SNV	Uncertain significance	305325	rs886048483	11:65485423-65485423	11:65717952-65717952
19	RNASEH2C	NM_182710.3(KAT5):c.1265-575G>A	SNV	Uncertain significance	305329	rs886048486	11:65485486-65485486	11:65718015-65718015
20	RNASEH2C	NM_182710.3(KAT5):c.1265-401C>T	SNV	Uncertain significance	305333	rs761492773	11:65485660-65485660	11:65718189-65718189
21	RNASEH2C	NM_182710.3(KAT5):c.1265-24C>G	SNV	Uncertain significance	305337	rs886048490	11:65486037-65486037	11:65718566-65718566
22	RNASEH2C	NM_182710.3(KAT5):c.*162C>G	SNV	Uncertain significance	305351	rs544558074	11:65486814-65486814	11:65719343-65719343
23	RNASEH2C	NM_032193.3(RNASEH2C):c.*27C>G	SNV	Uncertain significance	305357	rs886048500	11:65487227-65487227	11:65719756-65719756
24	RNASEH2C	NM_032193.3(RNASEH2C):c.468+5G>C	SNV	Uncertain significance	305360	rs753880827	11:65487511-65487511	11:65720040-65720040
25	RNASEH2C	NM_032193.3(RNASEH2C):c.-27G>T	SNV	Uncertain significance	305368	rs549471118	11:65488256-65488256	11:65720785-65720785
26	RNASEH2C	NM_032193.3(RNASEH2C):c.173-4C>G	SNV	Uncertain significance	305365	rs886048501	11:65487892-65487892	11:65720421-65720421
27	RNASEH2C	NM_032193.3(RNASEH2C):c.-89C>G	SNV	Uncertain significance	305369	rs886048503	11:65488318-65488318	11:65720847-65720847
28	RNASEH2C	NM_182710.3(KAT5):c.1265-613C>T	SNV	Uncertain significance	305326	rs886048484	11:65485448-65485448	11:65717977-65717977
29	RNASEH2C	NM_182710.3(KAT5):c.1425-30T>C	SNV	Uncertain significance	305340	rs767097041	11:65486314-65486314	11:65718843-65718843
30	RNASEH2C	NM_182710.3(KAT5):c.1507-11C>T	SNV	Uncertain significance	305342	rs201326733	11:65486507-65486507	11:65719036-65719036
31	RNASEH2C	NM_182710.3(KAT5):c.*42G>A	SNV	Uncertain significance	305345	rs886048494	11:65486694-65486694	11:65719223-65719223
32	RNASEH2C	NM_182710.3(KAT5):c.*146C>T	SNV	Uncertain significance	305349	rs561937926	11:65486798-65486798	11:65719327-65719327
33	RNASEH2C	NM_032193.3(RNASEH2C):c.*29A>G	SNV	Uncertain significance	305356	rs886048499	11:65487225-65487225	11:65719754-65719754
34	RNASEH2C	NM_032193.3(RNASEH2C):c.173-14G>A	SNV	Uncertain significance	305366	rs886048502	11:65487902-65487902	11:65720431-65720431
35	RNASEH2C	NM_032193.3(RNASEH2C):c.268A>G (p.Lys90Glu)	SNV	Uncertain significance	305364	rs200659526	11:65487793-65487793	11:65720322-65720322
36	RNASEH2C	NM_182710.3(KAT5):c.1473T>G (p.Thr491=)	SNV	Uncertain significance	305341	rs886048491	11:65486392-65486392	11:65718921-65718921
37	RNASEH2C	NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro)	SNV	Uncertain significance	203393	rs774773395	11:65487550-65487550	11:65720079-65720079
38	RNASEH2C	NM_182710.3(KAT5):c.1265-585G>C	SNV	Uncertain significance	305327	rs886048485	11:65485476-65485476	11:65718005-65718005
39	RNASEH2C	NM_182710.3(KAT5):c.1265-465C>G	SNV	Uncertain significance	305331	rs886048488	11:65485596-65485596	11:65718125-65718125
40	RNASEH2C	NM_182710.3(KAT5):c.1265-311C>T	SNV	Uncertain significance	305335	rs886048489	11:65485750-65485750	11:65718279-65718279
41	RNASEH2C	NM_032193.4(RNASEH2C):c.*374T>G	SNV	Uncertain significance	877674		11:65486880-65486880	11:65719409-65719409
42	RNASEH2C	NM_032193.4(RNASEH2C):c.*317C>T	SNV	Uncertain significance	878689		11:65486937-65486937	11:65719466-65719466
43	RNASEH2C	NM_032193.4(RNASEH2C):c.*178C>G	SNV	Uncertain significance	878692		11:65487076-65487076	11:65719605-65719605
44	RNASEH2C	NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile)	SNV	Uncertain significance	879297		11:65487529-65487529	11:65720058-65720058
45	RNASEH2C	NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn)	SNV	Uncertain significance	879298		11:65487529-65487529	11:65720058-65720058
46	RNASEH2C	NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu)	SNV	Uncertain significance	880475		11:65487713-65487713	11:65720242-65720242
47	RNASEH2C	NC_000011.10:g.65720897C>A	SNV	Uncertain significance	877708		11:65488368-65488368	11:65720897-65720897
48	RNASEH2C	NC_000011.10:g.65720944T>G	SNV	Uncertain significance	877709		11:65488415-65488415	11:65720944-65720944
49	RNASEH2C	NM_032193.3(RNASEH2C):c.269A>T (p.Lys90Met)	SNV	Uncertain significance	445891	rs772347588	11:65487792-65487792	11:65720321-65720321
50	RNASEH2C	NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr)	SNV	Uncertain significance	464266	rs773527127	11:65488115-65488115	11:65720644-65720644

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 3:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RNASEH2C	p.Arg69Trp	VAR_027287	rs78635798
2	RNASEH2C	p.Lys143Ile	VAR_027288	rs75146158
3	RNASEH2C	p.Arg13His	VAR_070618	rs75328625
4	RNASEH2C	p.Asp39Tyr	VAR_070619	rs773527127
5	RNASEH2C	p.Pro76Leu	VAR_070620	rs76091978
6	RNASEH2C	p.Pro138Leu	VAR_070621
7	RNASEH2C	p.Pro151Ser	VAR_070622	rs78464826

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Expression for Aicardi-Goutieres Syndrome 3

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Aicardi-Goutieres Syndrome 3 (AGS3)

Aliases & Classifications for Aicardi-Goutieres Syndrome 3

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