RNASEH2A (ribonuclease H2 subunit A) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: RNASEH2A (ribonuclease H2 subunit A) Homo sapiens
Analyze
Symbol: RNASEH2A
Name: ribonuclease H2 subunit A
RGD ID: 1316328
HGNC Page HGNC
Description: Exhibits RNA-DNA hybrid ribonuclease activity. Involved in RNA catabolic process and mismatch repair. Localizes to cytosol; nucleoplasm; and ribonuclease H2 complex. Implicated in Aicardi-Goutieres syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGS4; aicardi-Goutieres syndrome 4 protein; JUNB; ribonuclease H2, large subunit; ribonuclease H2, subunit A; ribonuclease HI large subunit; ribonuclease HI subunit A; ribonuclease HI, large subunit; RNase H(35); RNase H2 subunit A; RNase HI large subunit; RNASEHI; RNHIA; RNHL; THSD8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,806,584 - 12,813,640 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1912,806,556 - 12,815,201 (+)EnsemblGRCh38hg38GRCh38
GRCh381912,806,584 - 12,813,640 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,917,398 - 12,924,454 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371912,912,863 - 12,924,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,778,428 - 12,785,462 (+)NCBINCBI36hg18NCBI36
Build 341912,778,427 - 12,785,462NCBI
Celera1912,807,135 - 12,814,169 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,489,074 - 12,496,108 (+)NCBIHuRef
CHM1_11912,917,906 - 12,924,940 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA)
ribonuclease H2 complex  (IBA,IDA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Acrocyanosis  (IAGP)
Aortic aneurysm  (IAGP)
Arrhinencephaly  (IAGP)
Arthritis  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brain atrophy  (IAGP)
Calcification of the aorta  (IAGP)
Cardiomegaly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral calcification  (IAGP)
Chilblains  (IAGP)
Chronic CSF lymphocytosis  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Convex nasal ridge  (IAGP)
CSF lymphocytic pleiocytosis  (IAGP)
Cutis marmorata  (IAGP)
Death in childhood  (IAGP)
Degeneration of the striatum  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Developmental glaucoma  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Difficulty walking  (IAGP)
Dry skin  (IAGP)
Dystonia  (IAGP)
Elevated hepatic transaminase  (IAGP)
Enchondroma  (IAGP)
Extrapyramidal muscular rigidity  (IAGP)
Eyelid coloboma  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Increased CSF interferon alpha  (IAGP)
Increased serum interferon-gamma level  (IAGP)
Infantile onset  (IAGP)
Intellectual disability, profound  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Large beaked nose  (IAGP)
Leukodystrophy  (IAGP)
Lipoatrophy  (IAGP)
Loss of speech  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Moyamoya phenomenon  (IAGP)
Multifocal cerebral white matter abnormalities  (IAGP)
Multiple joint contractures  (IAGP)
Muscle stiffness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myositis  (IAGP)
Neonatal alloimmune thrombocytopenia  (IAGP)
Nystagmus  (IAGP)
Pancytopenia  (IAGP)
Panniculitis  (IAGP)
Plagiocephaly  (IAGP)
Porencephalic cyst  (IAGP)
Progressive microcephaly  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Ptosis  (IAGP)
Raynaud phenomenon  (IAGP)
Respiratory insufficiency  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Spastic paraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Unexplained fevers  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:9789007   PMID:12477932   PMID:15489334   PMID:16845400   PMID:17846997   PMID:19015152   PMID:19139135   PMID:20301334   PMID:20301648   PMID:21177858   PMID:21454563  
PMID:21873635   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23592335   PMID:23603115   PMID:24501781   PMID:24986920   PMID:25281560   PMID:25515538   PMID:25703292   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:27176716   PMID:27643693   PMID:28514442   PMID:29117863   PMID:29568061   PMID:29843367   PMID:30532030   PMID:30560944   PMID:30696738   PMID:31617661  
PMID:31753913  


Genomics

Comparative Map Data
RNASEH2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,806,584 - 12,813,640 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1912,806,556 - 12,815,201 (+)EnsemblGRCh38hg38GRCh38
GRCh381912,806,584 - 12,813,640 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,917,398 - 12,924,454 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371912,912,863 - 12,924,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,778,428 - 12,785,462 (+)NCBINCBI36hg18NCBI36
Build 341912,778,427 - 12,785,462NCBI
Celera1912,807,135 - 12,814,169 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,489,074 - 12,496,108 (+)NCBIHuRef
CHM1_11912,917,906 - 12,924,940 (+)NCBICHM1_1
Rnaseh2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,683,239 - 85,694,498 (-)NCBIGRCm39mm39
GRCm38884,956,610 - 84,969,598 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,956,610 - 84,969,767 (-)EnsemblGRCm38mm10GRCm38
MGSCv37887,480,509 - 87,489,910 (-)NCBIGRCm37mm9NCBIm37
MGSCv36887,847,772 - 87,856,190 (-)NCBImm8
MGSCv36884,658,774 - 84,667,268 (-)NCBImm8
Celera889,256,901 - 89,258,430 (-)NCBICelera
Cytogenetic Map8C3NCBI
Rnaseh2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21923,186,325 - 23,196,045 (+)NCBI
Rnor_6.0 Ensembl1926,074,987 - 26,084,679 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01926,074,980 - 26,084,780 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01937,050,603 - 37,060,340 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,841,614 - 24,851,834 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11924,846,439 - 24,856,658 (+)NCBI
Celera1922,743,902 - 22,753,535 (+)NCBICelera
Cytogenetic Map19q11NCBI
Rnaseh2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,884,533 - 31,898,433 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,884,533 - 31,894,159 (+)NCBIChiLan1.0ChiLan1.0
RNASEH2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11913,112,242 - 13,119,514 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,112,242 - 13,119,514 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01912,363,721 - 12,375,316 (+)NCBIMhudiblu_PPA_v0panPan3
RNASEH2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2049,345,266 - 49,355,167 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12049,345,258 - 49,352,944 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rnaseh2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366591,897,777 - 1,905,526 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNASEH2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,193,192 - 66,208,478 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,192,785 - 66,208,417 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,513,545 - 66,527,971 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNASEH2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,493,752 - 11,501,167 (+)NCBI
ChlSab1.1 Ensembl611,493,764 - 11,501,363 (+)Ensembl
Rnaseh2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624901411,023 - 419,831 (+)NCBI

Position Markers
RH15924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,924,139 - 12,924,288UniSTSGRCh37
Build 361912,785,139 - 12,785,288RGDNCBI36
Celera1912,813,846 - 12,813,995RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,495,785 - 12,495,934UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:752
Count of miRNA genes:577
Interacting mature miRNAs:646
Transcripts:ENST00000221486, ENST00000590121, ENST00000590279, ENST00000593017
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1049 617 957 226 910 124 2898 378 1494 254 1275 1314 115 850 1513 5
Low 1390 2354 755 384 985 327 1458 1814 2231 155 168 297 60 1 354 1275 1 2
Below cutoff 15 9 9 54 9 1 4 8 16 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000221486   ⟹   ENSP00000221486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,806,584 - 12,813,640 (+)Ensembl
RefSeq Acc Id: ENST00000590121   ⟹   ENSP00000495087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,806,677 - 12,807,976 (+)Ensembl
RefSeq Acc Id: ENST00000590279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,806,592 - 12,807,503 (+)Ensembl
RefSeq Acc Id: ENST00000593017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,806,684 - 12,813,525 (+)Ensembl
RefSeq Acc Id: ENST00000643757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,806,846 - 12,813,447 (+)Ensembl
RefSeq Acc Id: ENST00000646769   ⟹   ENSP00000495175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,806,605 - 12,813,335 (+)Ensembl
RefSeq Acc Id: NM_006397   ⟹   NP_006388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,806,584 - 12,813,640 (+)NCBI
GRCh371912,912,863 - 12,924,462 (+)NCBI
Build 361912,778,428 - 12,785,462 (+)NCBI Archive
Celera1912,807,135 - 12,814,169 (+)RGD
HuRef1912,489,074 - 12,496,108 (+)ENTREZGENE
CHM1_11912,917,906 - 12,924,940 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006388   ⟸   NM_006397
- UniProtKB: O75792 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000221486   ⟸   ENST00000221486
RefSeq Acc Id: ENSP00000495087   ⟸   ENST00000590121
RefSeq Acc Id: ENSP00000495175   ⟸   ENST00000646769
Protein Domains
RNase_HII

Promoters
RGD ID:6795994
Promoter ID:HG_KWN:29031
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006397,   UC002MVF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,778,256 - 12,778,756 (+)MPROMDB
RGD ID:6852732
Promoter ID:EP74179
Type:initiation region
Name:HS_RNASEH2A_1
Description:Ribonuclease H2, large subunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74180  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,778,412 - 12,778,472EPD
RGD ID:6852734
Promoter ID:EP74180
Type:multiple initiation site
Name:HS_RNASEH2A_2
Description:Ribonuclease H2, large subunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74179  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,778,478 - 12,778,538EPD
RGD ID:7238727
Promoter ID:EPDNEW_H25108
Type:initiation region
Name:RNASEH2A_1
Description:ribonuclease H2 subunit A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25109  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,806,584 - 12,806,644EPDNEW
RGD ID:7238725
Promoter ID:EPDNEW_H25109
Type:initiation region
Name:RNASEH2A_2
Description:ribonuclease H2 subunit A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25108  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,813,167 - 12,813,227EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000639854] Chr19:12807228 [GRCh38]
Chr19:12918042 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000639855] Chr19:12806702 [GRCh38]
Chr19:12917516 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) single nucleotide variant not provided [RCV000639857] Chr19:12810124 [GRCh38]
Chr19:12920938 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.2(RNASEH2A):c.79G>C (p.Glu27Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000811955]|not provided [RCV000728319] Chr19:12806752 [GRCh38]
Chr19:12917566 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.894C>A (p.Ser298Arg) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001128553]|not specified [RCV000517805] Chr19:12813460 [GRCh38]
Chr19:12924274 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000004904] Chr19:12806782 [GRCh38]
Chr19:12917596 [GRCh37]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000056302] Chr19:12806748 [GRCh38]
Chr19:12917562 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000056303] Chr19:12813149 [GRCh38]
Chr19:12923963 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.69G>A (p.Val23=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000056304] Chr19:12806742 [GRCh38]
Chr19:12917556 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000056305]|Aicardi Goutieres syndrome [RCV000610608] Chr19:12810323 [GRCh38]
Chr19:12921137 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000056306] Chr19:12810402 [GRCh38]
Chr19:12921216 [GRCh37]
Chr19:19p13.13
pathogenic|uncertain significance
NM_006397.2(RNASEH2A):c.207dup (p.Thr70fs) duplication Aicardi Goutieres syndrome 4 [RCV000114337] Chr19:12807212..12807213 [GRCh38]
Chr19:12918026..12918027 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.290C>T (p.Ser97Phe) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000661914] Chr19:12807296 [GRCh38]
Chr19:12918110 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.746C>A (p.Ala249Glu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000661915] Chr19:12813191 [GRCh38]
Chr19:12924005 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000114338] Chr19:12807328 [GRCh38]
Chr19:12918142 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.690C>A (p.Phe230Leu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000114339] Chr19:12813135 [GRCh38]
Chr19:12923949 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.714_715GC[3] (p.Thr240fs) microsatellite Aicardi Goutieres syndrome 4 [RCV000114340] Chr19:12813158..12813159 [GRCh38]
Chr19:12923972..12923973 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000114341] Chr19:12813164 [GRCh38]
Chr19:12923978 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.2(RNASEH2A):c.872G>A (p.Arg291His) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000114342] Chr19:12813438 [GRCh38]
Chr19:12924252 [GRCh37]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000763423]|not provided [RCV000514532] Chr19:12810324 [GRCh38]
Chr19:12921138 [GRCh37]
Chr19:19p13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_006397.3(RNASEH2A):c.550-11T>C single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000369676]|not specified [RCV000253365] Chr19:12810306 [GRCh38]
Chr19:12921120 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000625139]|not specified [RCV000244231] Chr19:12806706 [GRCh38]
Chr19:12917520 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000560443]|not specified [RCV000249194] Chr19:12810121 [GRCh38]
Chr19:12920935 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000531947]|not specified [RCV000245339] Chr19:12810372 [GRCh38]
Chr19:12921186 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000808412] Chr19:12810335 [GRCh38]
Chr19:12921149 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.637+8G>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000272125] Chr19:12810412 [GRCh38]
Chr19:12921226 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.762-13C>G single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000323597] Chr19:12813315 [GRCh38]
Chr19:12924129 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000544425]|not provided [RCV000712932] Chr19:12810382 [GRCh38]
Chr19:12921196 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001048368]|not provided [RCV000712933] Chr19:12813387 [GRCh38]
Chr19:12924201 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.*120C>T single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000349590] Chr19:12813586 [GRCh38]
Chr19:12924400 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.2(RNASEH2A):c.637+13G>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000329563] Chr19:12810417 [GRCh38]
Chr19:12921231 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.2(RNASEH2A):c.758T>C (p.Ile253Thr) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000967301] Chr19:12813203 [GRCh38]
Chr19:12924017 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000625140] Chr19:12813107 [GRCh38]
Chr19:12923921 [GRCh37]
Chr19:19p13.13
benign|likely benign|uncertain significance
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000556823]|not provided [RCV000992756]|not specified [RCV000454882] Chr19:12813343 [GRCh38]
Chr19:12924157 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.2(RNASEH2A):c.*68C>T single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000292200] Chr19:12813534 [GRCh38]
Chr19:12924348 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.-49C>T single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001122755]|Aicardi Goutieres syndrome [RCV000335151] Chr19:12806625 [GRCh38]
Chr19:12917439 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.*16G>T single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000336732] Chr19:12813482 [GRCh38]
Chr19:12924296 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.*50T>C single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000399806] Chr19:12813516 [GRCh38]
Chr19:12924330 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.-16T>C single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000299981]|not specified [RCV000602334] Chr19:12806658 [GRCh38]
Chr19:12917472 [GRCh37]
Chr19:19p13.13
benign|likely benign
NM_006397.2(RNASEH2A):c.285G>A (p.Val95=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000405088] Chr19:12807291 [GRCh38]
Chr19:12918105 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.623C>T (p.Ser208Leu) single nucleotide variant not provided [RCV000521192] Chr19:12810390 [GRCh38]
Chr19:12921204 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.-25A>G single nucleotide variant Aicardi Goutieres syndrome [RCV000407645] Chr19:12806649 [GRCh38]
Chr19:12917463 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.844C>T (p.Arg282Cys) single nucleotide variant not provided [RCV000591792] Chr19:12813410 [GRCh38]
Chr19:12924224 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.590A>G (p.Glu197Gly) single nucleotide variant Inborn genetic diseases [RCV000624827] Chr19:12810357 [GRCh38]
Chr19:12921171 [GRCh37]
Chr19:19p13.13
likely pathogenic|uncertain significance
NM_006397.2(RNASEH2A):c.855C>G (p.His285Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000735219] Chr19:12813421 [GRCh38]
Chr19:12924235 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
NM_006397.2(RNASEH2A):c.760T>C (p.Trp254Arg) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001208798]|not provided [RCV000519024] Chr19:12813205 [GRCh38]
Chr19:12924019 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000531011] Chr19:12810076 [GRCh38]
Chr19:12920890 [GRCh37]
Chr19:19p13.13
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_006397.2(RNASEH2A):c.412-6T>G single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000639856] Chr19:12810065 [GRCh38]
Chr19:12920879 [GRCh37]
Chr19:19p13.13
benign
NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000639858] Chr19:12806709 [GRCh38]
Chr19:12917523 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000706691] Chr19:12807469 [GRCh38]
Chr19:12918283 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000687222] Chr19:12807059 [GRCh38]
Chr19:12917873 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000703061] Chr19:12806756 [GRCh38]
Chr19:12917570 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000691561] Chr19:12806747 [GRCh38]
Chr19:12917561 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000765436]|not provided [RCV000712934] Chr19:12813440 [GRCh38]
Chr19:12924254 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001068131] Chr19:12807040 [GRCh38]
Chr19:12917854 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001044470] Chr19:12806746 [GRCh38]
Chr19:12917560 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=) single nucleotide variant not provided [RCV000921818] Chr19:12806719 [GRCh38]
Chr19:12917533 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001069310] Chr19:12810392 [GRCh38]
Chr19:12921206 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001068595] Chr19:12807432 [GRCh38]
Chr19:12918246 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001068640] Chr19:12813405 [GRCh38]
Chr19:12924219 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001070145] Chr19:12807229 [GRCh38]
Chr19:12918043 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001048560] Chr19:12813116 [GRCh38]
Chr19:12923930 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.199+9G>C single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000919359] Chr19:12807088 [GRCh38]
Chr19:12917902 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.489G>A (p.Thr163=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000977960] Chr19:12810148 [GRCh38]
Chr19:12920962 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000962693] Chr19:12813129 [GRCh38]
Chr19:12923943 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.346C>T (p.Leu116=) single nucleotide variant not provided [RCV000938483] Chr19:12807441 [GRCh38]
Chr19:12918255 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) duplication Aicardi Goutieres syndrome 4 [RCV000779252] Chr19:12807209..12807210 [GRCh38]
Chr19:12918023..12918024 [GRCh37]
Chr19:19p13.13
conflicting interpretations of pathogenicity|uncertain significance
NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000813762] Chr19:12807281 [GRCh38]
Chr19:12918095 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000822955] Chr19:12810098 [GRCh38]
Chr19:12920912 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.566C>A (p.Ala189Asp) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000794257] Chr19:12810333 [GRCh38]
Chr19:12921147 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000799844] Chr19:12813148 [GRCh38]
Chr19:12923962 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000990152] Chr19:12813191 [GRCh38]
Chr19:12924005 [GRCh37]
Chr19:19p13.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs) deletion not provided [RCV000788143] Chr19:12810355 [GRCh38]
Chr19:12921169 [GRCh37]
Chr19:19p13.13
pathogenic
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001068009] Chr19:12807233 [GRCh38]
Chr19:12918047 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000976573] Chr19:12813192 [GRCh38]
Chr19:12924006 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.200-8C>T single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000919360] Chr19:12807198 [GRCh38]
Chr19:12918012 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000816820] Chr19:12813160 [GRCh38]
Chr19:12923974 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.2(RNASEH2A):c.324-6C>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000816891] Chr19:12807413 [GRCh38]
Chr19:12918227 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001239081] Chr19:12807015 [GRCh38]
Chr19:12917829 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001210471] Chr19:12813438 [GRCh38]
Chr19:12924252 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001223415] Chr19:12807022 [GRCh38]
Chr19:12917836 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg) indel Aicardi Goutieres syndrome 4 [RCV001239167] Chr19:12806798 [GRCh38]
Chr19:12917612 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001239437] Chr19:12807046 [GRCh38]
Chr19:12917860 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001238379] Chr19:12806774 [GRCh38]
Chr19:12917588 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001211598] Chr19:12810336 [GRCh38]
Chr19:12921150 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.199+8C>G single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001123839] Chr19:12807087 [GRCh38]
Chr19:12917901 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000966064] Chr19:12807434 [GRCh38]
Chr19:12918248 [GRCh37]
Chr19:19p13.13
benign
NM_006397.3(RNASEH2A):c.108G>A (p.Ala36=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000941993] Chr19:12806781 [GRCh38]
Chr19:12917595 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000888861] Chr19:12807423 [GRCh38]
Chr19:12918237 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity
NM_006397.3(RNASEH2A):c.638-9C>A single nucleotide variant not provided [RCV000908295] Chr19:12813074 [GRCh38]
Chr19:12923888 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001222777] Chr19:12807047 [GRCh38]
Chr19:12917861 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001236406] Chr19:12806717 [GRCh38]
Chr19:12917531 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001203702] Chr19:12810174 [GRCh38]
Chr19:12920988 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001223615] Chr19:12813449 [GRCh38]
Chr19:12924263 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs) deletion Aicardi Goutieres syndrome 4 [RCV001227635] Chr19:12813432 [GRCh38]
Chr19:12924246 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.741A>G (p.Lys247=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV000912287] Chr19:12813186 [GRCh38]
Chr19:12924000 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.453G>A (p.Ala151=) single nucleotide variant not provided [RCV000935746] Chr19:12810112 [GRCh38]
Chr19:12920926 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001126488] Chr19:12810339 [GRCh38]
Chr19:12921153 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His) indel Aicardi Goutieres syndrome 4 [RCV001044174] Chr19:12806788..12806789 [GRCh38]
Chr19:12917602..12917603 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.*93A>G single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001122848] Chr19:12813559 [GRCh38]
Chr19:12924373 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001070146] Chr19:12813446 [GRCh38]
Chr19:12924260 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001219778] Chr19:12813369 [GRCh38]
Chr19:12924183 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001214822] Chr19:12813115 [GRCh38]
Chr19:12923929 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001058397] Chr19:12807329 [GRCh38]
Chr19:12918143 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.*69G>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001122847] Chr19:12813535 [GRCh38]
Chr19:12924349 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.*123G>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001122849] Chr19:12813589 [GRCh38]
Chr19:12924403 [GRCh37]
Chr19:19p13.13
likely benign
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001063942] Chr19:12807023 [GRCh38]
Chr19:12917837 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001064142] Chr19:12810086 [GRCh38]
Chr19:12920900 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001123840] Chr19:12807497 [GRCh38]
Chr19:12918311 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001123841] Chr19:12810175 [GRCh38]
Chr19:12920989 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.550-13G>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001123842] Chr19:12810304 [GRCh38]
Chr19:12921118 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.-69G>A single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001122754] Chr19:12806605 [GRCh38]
Chr19:12917419 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001230827] Chr19:12813437 [GRCh38]
Chr19:12924251 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001052467] Chr19:12810177 [GRCh38]
Chr19:12920991 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg) single nucleotide variant Aicardi Goutieres syndrome 4 [RCV001232243] Chr19:12806800 [GRCh38]
Chr19:12917614 [GRCh37]
Chr19:19p13.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18518 AgrOrtholog
COSMIC RNASEH2A COSMIC
Ensembl Genes ENSG00000104889 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000221486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495087 UniProtKB/TrEMBL
  ENSP00000495175 UniProtKB/TrEMBL
Ensembl Transcript ENST00000221486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000590121 UniProtKB/TrEMBL
  ENST00000646769 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.460 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104889 GTEx
HGNC ID HGNC:18518 ENTREZGENE
Human Proteome Map RNASEH2A Human Proteome Map
InterPro RNase_H2_suA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_HII/HIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_HII/HIII_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_HII_hlx-loop-hlx_cap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10535 UniProtKB/Swiss-Prot
NCBI Gene 10535 ENTREZGENE
OMIM 606034 OMIM
  610333 OMIM
PANTHER PTHR10954 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RNase_HII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38565 PharmGKB
Superfamily-SCOP SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs TIGR00729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y606_HUMAN UniProtKB/TrEMBL
  A0A2R8Y658_HUMAN UniProtKB/TrEMBL
  O75792 ENTREZGENE
  Q6UQL6_HUMAN UniProtKB/TrEMBL
  RNH2A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RCY1 UniProtKB/Swiss-Prot
  Q96F11 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 RNASEH2A  ribonuclease H2 subunit A    ribonuclease H2, subunit A  Symbol and/or name change 5135510 APPROVED