AGS3
MCID: ACR088
MIFTS: 39

Aicardi-Goutieres Syndrome 3 (AGS3)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

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:



External Ids:

OMIM 56 610329
OMIM Phenotypic Series 56 PS225750
MedGen 41 C1835916
UMLS 71 C0796126 C1835916 C3489725

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.

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:



Diseases related to Aicardi-Goutieres Syndrome 3

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 3

Human phenotypes related to Aicardi-Goutieres Syndrome 3:

31 (show all 16)
# Description HPO Frequency 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

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 3

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

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

Anatomical Context for Aicardi-Goutieres Syndrome 3

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

40
Brain, Eye, Skin, Kidney, Cortex, Heart, Lung

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
23322642 2013
2
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 6 56
16845400 2006
3
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6
17846997 2007
4
Aicardi-Goutières Syndrome 6
20301648 2005
5
RGS4 controls Gαi3-mediated regulation of Bcl-2 phosphorylation on TGN38-containing intracellular membranes. 61
32501280 2020
6
Calcineurin signaling pathway influences Aspergillus niger biofilm formation by affecting hydrophobicity and cell wall integrity. 61
32190119 2020
7
Activator of G protein signaling 3 modulates prostate tumor development and progression. 61
31215992 2019
8
Role of G-proteins and phosphorylation in the distribution of AGS3 to cell puncta. 61
30404823 2018
9
A Residue outside the Binding Site Determines the Gα Binding Specificity of GoLoco Motifs. 61
30406994 2018
10
Urinary exosomal expression of activator of G protein signaling 3 in polycystic kidney disease. 61
29880041 2018
11
Loss of the canonical spindle orientation function in the Pins/LGN homolog AGS3. 61
28684399 2017
12
Ric-8A, an activator protein of Gαi, controls mammalian epithelial cell polarity for tight junction assembly and cystogenesis. 61
28185378 2017
13
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
14
Regulation of Airway Inflammation by G-protein Regulatory Motif Peptides of AGS3 protein. 61
27270970 2016
15
Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o. 61
26987813 2016
16
In vitro mitomycin C absorption and delivery with different sponge materials used in filtering surgery. 61
27143843 2016
17
Activator of G-Protein Signaling 3-Induced Lysosomal Biogenesis Limits Macrophage Intracellular Bacterial Infection. 61
26667172 2016
18
XAS Investigation of Silver(I) Coordination in Copper(I) Biological Binding Sites. 61
26632864 2015
19
Activator of G-protein Signaling 3 Controls Renal Epithelial Cell Survival and ERK5 Activation. 61
27096004 2015
20
Direct Coupling of a Seven-Transmembrane-Span Receptor to a Gαi G-Protein Regulatory Motif Complex. 61
25972449 2015
21
Overexpression of activator of G-protein signaling 3 decreases the proliferation of esophageal squamous cell carcinoma. 61
25812748 2015
22
AGS3 is involved in TNF-α medicated osteogenic differentiation of human dental pulp stem cells. 61
26143356 2015
23
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
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
25480567 2015
25
Gαi3-Dependent Inhibition of JNK Activity on Intracellular Membranes. 61
26389115 2015
26
Development of inhibitors of heterotrimeric Gαi subunits. 61
24818958 2014
27
Implications of non-canonical G-protein signaling for the immune system. 61
24583286 2014
28
Defective chemokine signal integration in leukocytes lacking activator of G protein signaling 3 (AGS3). 61
24573680 2014
29
G Protein-coupled receptor kinase-6 interacts with activator of G protein signaling-3 to regulate CXCR2-mediated cellular functions. 61
24510965 2014
30
A role for activator of G-protein signaling 3 (AGS3) in multiple myeloma. 61
24307516 2014
31
The cell polarity protein mInsc regulates neutrophil chemotaxis via a noncanonical G protein signaling pathway. 61
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
23770668 2013
33
IGF-1 activates a cilium-localized noncanonical Gβγ signaling pathway that regulates cell-cycle progression. 61
23954591 2013
34
Differential effects of AGS3 expression on D(2L) dopamine receptor-mediated adenylyl cyclase signaling. 61
23504261 2013
35
Increased expression of AGS3 in rat brain cortex after traumatic brain injury. 61
23404409 2013
36
Silver(I) complex formation with cysteine, penicillamine, and glutathione. 61
23556419 2013
37
Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. 61
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
24244155 2013
39
Normal autophagic activity in macrophages from mice lacking Gαi3, AGS3, or RGS19. 61
24312373 2013
40
N-Acetyl-cysteine causes analgesia by reinforcing the endogenous activation of type-2 metabotropic glutamate receptors. 61
23088864 2012
41
The G-protein regulator LGN modulates the activity of the NO receptor soluble guanylate cyclase. 61
22690686 2012
42
α1,3 glucans are dispensable in Aspergillus fumigatus. 61
22058140 2012
43
Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). 61
22074847 2011
44
Dynamic localization of C. elegans TPR-GoLoco proteins mediates mitotic spindle orientation by extrinsic signaling. 61
21903670 2011
45
Loss of activator of G-protein signaling 3 impairs renal tubular regeneration following acute kidney injury in rodents. 61
21343176 2011
46
A GDI (AGS3) and a GEF (GIV) regulate autophagy by balancing G protein activity and growth factor signals. 61
21209316 2011
47
Asymmetric cell divisions promote Notch-dependent epidermal differentiation. 61
21331036 2011
48
Regulation of the AGS3·G{alpha}i signaling complex by a seven-transmembrane span receptor. 61
20716524 2010
49
Activators of G-protein signaling 3: a drug addiction molecular gateway. 61
20700046 2010
50
Activator of G protein signaling 3 promotes epithelial cell proliferation in PKD. 61
20488951 2010

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>ASNV 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>ASNV Uncertain significance 305347 rs756513194 11:65486713-65486713 11:65719242-65719242
8 RNASEH2C NM_182710.3(KAT5):c.*217G>TSNV Uncertain significance 305352 rs757672652 11:65486869-65486869 11:65719398-65719398
9 RNASEH2C NM_182710.3(KAT5):c.*239G>ASNV Uncertain significance 305353 rs547082810 11:65486891-65486891 11:65719420-65719420
10 RNASEH2C NM_032193.3(RNASEH2C):c.348+6C>TSNV Uncertain significance 305362 rs779293116 11:65487707-65487707 11:65720236-65720236
11 RNASEH2C NM_182710.3(KAT5):c.1265-784G>ASNV Uncertain significance 305323 rs886048482 11:65485277-65485277 11:65717806-65717806
12 RNASEH2C NM_182710.3(KAT5):c.1265-544G>ASNV 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>CSNV Uncertain significance 305348 rs886048495 11:65486722-65486722 11:65719251-65719251
16 RNASEH2C NM_182710.3(KAT5):c.*151G>ASNV Uncertain significance 305350 rs886048496 11:65486803-65486803 11:65719332-65719332
17 RNASEH2C NM_182710.3(KAT5):c.*379C>TSNV Uncertain significance 305354 rs886048497 11:65487031-65487031 11:65719560-65719560
18 RNASEH2C NM_182710.3(KAT5):c.1265-638C>TSNV Uncertain significance 305325 rs886048483 11:65485423-65485423 11:65717952-65717952
19 RNASEH2C NM_182710.3(KAT5):c.1265-575G>ASNV Uncertain significance 305329 rs886048486 11:65485486-65485486 11:65718015-65718015
20 RNASEH2C NM_182710.3(KAT5):c.1265-401C>TSNV Uncertain significance 305333 rs761492773 11:65485660-65485660 11:65718189-65718189
21 RNASEH2C NM_182710.3(KAT5):c.1265-24C>GSNV Uncertain significance 305337 rs886048490 11:65486037-65486037 11:65718566-65718566
22 RNASEH2C NM_182710.3(KAT5):c.*162C>GSNV Uncertain significance 305351 rs544558074 11:65486814-65486814 11:65719343-65719343
23 RNASEH2C NM_032193.3(RNASEH2C):c.*27C>GSNV Uncertain significance 305357 rs886048500 11:65487227-65487227 11:65719756-65719756
24 RNASEH2C NM_032193.3(RNASEH2C):c.468+5G>CSNV Uncertain significance 305360 rs753880827 11:65487511-65487511 11:65720040-65720040
25 RNASEH2C NM_032193.3(RNASEH2C):c.-27G>TSNV Uncertain significance 305368 rs549471118 11:65488256-65488256 11:65720785-65720785
26 RNASEH2C NM_032193.3(RNASEH2C):c.173-4C>GSNV Uncertain significance 305365 rs886048501 11:65487892-65487892 11:65720421-65720421
27 RNASEH2C NM_032193.3(RNASEH2C):c.-89C>GSNV Uncertain significance 305369 rs886048503 11:65488318-65488318 11:65720847-65720847
28 RNASEH2C NM_182710.3(KAT5):c.1265-613C>TSNV Uncertain significance 305326 rs886048484 11:65485448-65485448 11:65717977-65717977
29 RNASEH2C NM_182710.3(KAT5):c.1425-30T>CSNV Uncertain significance 305340 rs767097041 11:65486314-65486314 11:65718843-65718843
30 RNASEH2C NM_182710.3(KAT5):c.1507-11C>TSNV Uncertain significance 305342 rs201326733 11:65486507-65486507 11:65719036-65719036
31 RNASEH2C NM_182710.3(KAT5):c.*42G>ASNV Uncertain significance 305345 rs886048494 11:65486694-65486694 11:65719223-65719223
32 RNASEH2C NM_182710.3(KAT5):c.*146C>TSNV Uncertain significance 305349 rs561937926 11:65486798-65486798 11:65719327-65719327
33 RNASEH2C NM_032193.3(RNASEH2C):c.*29A>GSNV Uncertain significance 305356 rs886048499 11:65487225-65487225 11:65719754-65719754
34 RNASEH2C NM_032193.3(RNASEH2C):c.173-14G>ASNV 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>CSNV Uncertain significance 305327 rs886048485 11:65485476-65485476 11:65718005-65718005
39 RNASEH2C NM_182710.3(KAT5):c.1265-465C>GSNV Uncertain significance 305331 rs886048488 11:65485596-65485596 11:65718125-65718125
40 RNASEH2C NM_182710.3(KAT5):c.1265-311C>TSNV Uncertain significance 305335 rs886048489 11:65485750-65485750 11:65718279-65718279
41 RNASEH2C NM_032193.4(RNASEH2C):c.*374T>GSNV Uncertain significance 877674 11:65486880-65486880 11:65719409-65719409
42 RNASEH2C NM_032193.4(RNASEH2C):c.*317C>TSNV Uncertain significance 878689 11:65486937-65486937 11:65719466-65719466
43 RNASEH2C NM_032193.4(RNASEH2C):c.*178C>GSNV 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>ASNV Uncertain significance 877708 11:65488368-65488368 11:65720897-65720897
48 RNASEH2C NC_000011.10:g.65720944T>GSNV 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

Expression for Aicardi-Goutieres Syndrome 3

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 3.

Pathways for Aicardi-Goutieres Syndrome 3

GO Terms for Aicardi-Goutieres Syndrome 3

Sources for Aicardi-Goutieres Syndrome 3

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