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NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND Aicardi-Goutieres syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000114329.12

Allele description [Variation Report for NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)]

NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)

Genes:
ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
ATRIP-TREX1:ATRIP-TREX1 readthrough [Gene]
TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
HGVS:
  • NC_000003.12:g.48466707G>A
  • NG_009820.2:g.5878G>A
  • NG_033100.1:g.39154C>T
  • NG_033100.2:g.43103C>T
  • NG_041782.1:g.24998G>A
  • NG_099339.1:g.650G>A
  • NM_001271022.2:c.*1153G>A
  • NM_001271023.2:c.*1153G>A
  • NM_007248.5:c.22G>A
  • NM_032166.4:c.*1153G>A
  • NM_033629.6:c.52G>AMANE SELECT
  • NM_130384.3:c.*1153G>AMANE SELECT
  • NP_009179.2:p.Asp8Asn
  • NP_338599.1:p.Asp18Asn
  • NP_338599.1:p.Asp18Asn
  • LRG_282t1:c.52G>A
  • AAK07616.1:p.Asp18Asn
  • AF319569.1:c.52G>A
  • LRG_282:g.5878G>A
  • LRG_282p1:p.Asp18Asn
  • NC_000003.11:g.48508106G>A
  • NM_033629.2:c.52G>A
  • NM_033629.4:c.52G>A
  • NR_153405.1:n.3361G>A
  • Q9NSU2:p.Asp73Asn
Protein change:
D18N; ASP18ASN
Links:
UniProtKB: Q9NSU2#VAR_037948; OMIM: 606609.0007; dbSNP: rs121908117
NCBI 1000 Genomes Browser:
rs121908117
Molecular consequence:
  • NM_001271022.2:c.*1153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271023.2:c.*1153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.22G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033629.6:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_153405.1:n.3361G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aicardi-Goutieres syndrome 1
Synonyms:
CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; PSEUDOTOXOPLASMOSIS SYNDROME
Identifiers:
MONDO: MONDO:0009165; MedGen: C0796126; Orphanet: 51; OMIM: 225750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000147896GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000147896.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024