ClinVar

NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)

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:

• Chr3: 48467253 (on Assembly GRCh38)
• Chr3: 48508652 (on Assembly GRCh37)

Preferred name:

NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)

HGVS:

• NC_000003.12:g.48467253G>A
• NG_009820.2:g.6424G>A
• NG_033100.1:g.38608C>T
• NG_033100.2:g.42557C>T
• NG_041782.1:g.25544G>A
• NG_099340.1:g.314G>A
• NM_001271022.2:c.*1699G>A
• NM_001271023.2:c.*1699G>A
• NM_007248.5:c.568G>A
• NM_032166.4:c.*1699G>A
• NM_033629.6:c.598G>AMANE SELECT
• NM_130384.3:c.*1699G>AMANE SELECT
• NP_009179.2:p.Asp190Asn
• NP_338599.1:p.Asp200Asn
• NP_338599.1:p.Asp200Asn
• LRG_282t1:c.598G>A
• AAK07616.1:p.Asp200Asn
• LRG_282:g.6424G>A
• LRG_282p1:p.Asp200Asn
• NC_000003.11:g.48508652G>A
• NM_033629.4:c.598G>A
• NR_153405.1:n.3907G>A
• Q9NSU2:p.Asp255Asn

This HGVS expression did not pass validation

Protein change:

D190N; ASP200ASN

Links:

UniProtKB: Q9NSU2#VAR_032940; OMIM: 606609.0006; dbSNP: rs78846775

NCBI 1000 Genomes Browser:

rs78846775

Molecular consequence:

• NM_001271022.2:c.*1699G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271023.2:c.*1699G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_032166.4:c.*1699G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_130384.3:c.*1699G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_007248.5:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033629.6:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_153405.1:n.3907G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]