ClinVar

NM_033629.6(TREX1):c.582G>A (p.Ser194=)

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: 48467237 (on Assembly GRCh38)
• Chr3: 48508636 (on Assembly GRCh37)

Preferred name:

NM_033629.6(TREX1):c.582G>A (p.Ser194=)

HGVS:

• NC_000003.12:g.48467237G>A
• NG_009820.2:g.6408G>A
• NG_033100.1:g.38624C>T
• NG_033100.2:g.42573C>T
• NG_041782.1:g.25528G>A
• NG_099340.1:g.298G>A
• NM_001271022.2:c.*1683G>A
• NM_001271023.2:c.*1683G>A
• NM_007248.5:c.552G>A
• NM_032166.4:c.*1683G>A
• NM_033629.6:c.582G>AMANE SELECT
• NM_130384.3:c.*1683G>AMANE SELECT
• NP_009179.2:p.Ser184=
• NP_338599.1:p.Ser194=
• NP_338599.1:p.Ser194=
• LRG_282t1:c.582G>A
• LRG_282:g.6408G>A
• LRG_282p1:p.Ser194=
• NC_000003.11:g.48508636G>A
• NM_033629.4:c.582G>A
• NR_153405.1:n.3891G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs747560892

NCBI 1000 Genomes Browser:

rs747560892

Molecular consequence:

• NM_001271022.2:c.*1683G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271023.2:c.*1683G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_032166.4:c.*1683G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_130384.3:c.*1683G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_153405.1:n.3891G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_007248.5:c.552G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033629.6:c.582G>A - synonymous variant - [Sequence Ontology: SO:0001819]