ClinVar

NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)

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: 48467578 (on Assembly GRCh38)
• Chr3: 48508977 (on Assembly GRCh37)

Preferred name:

NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)

HGVS:

• NC_000003.12:g.48467578C>G
• NG_009820.2:g.6749C>G
• NG_033100.1:g.38283G>C
• NG_033100.2:g.42232G>C
• NG_041782.1:g.25869C>G
• NG_099340.1:g.639C>G
• NM_001271022.2:c.*2024C>G
• NM_001271023.2:c.*2024C>G
• NM_007248.5:c.893C>G
• NM_032166.4:c.*2024C>G
• NM_033629.6:c.923C>GMANE SELECT
• NM_130384.3:c.*2024C>GMANE SELECT
• NP_009179.2:p.Ser298Cys
• NP_338599.1:p.Ser308Cys
• NP_338599.1:p.Ser308Cys
• LRG_282t1:c.923C>G
• LRG_282:g.6749C>G
• LRG_282p1:p.Ser308Cys
• NC_000003.11:g.48508977C>G
• NM_033629.4:c.923C>G
• NR_153405.1:n.4232C>G

This HGVS expression did not pass validation

Protein change:

S298C

Links:

dbSNP: rs769885715

NCBI 1000 Genomes Browser:

rs769885715

Molecular consequence:

• NM_001271022.2:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271023.2:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_032166.4:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_130384.3:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_007248.5:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_033629.6:c.923C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_153405.1:n.4232C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1