ClinVar

NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28687974 (on Assembly GRCh38)
• Chr22: 29083962 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)

Other names:

p.R519*:CGA>TGA

HGVS:

• NC_000022.11:g.28687974G>A
• NG_008150.2:g.58893C>T
• NM_001005735.2:c.1684C>T
• NM_001257387.2:c.892C>T
• NM_001349956.2:c.1354C>T
• NM_007194.4:c.1555C>TMANE SELECT
• NM_145862.2:c.1468C>T
• NP_001005735.1:p.Arg562Ter
• NP_001244316.1:p.Arg298Ter
• NP_001336885.1:p.Arg452Ter
• NP_009125.1:p.Arg519Ter
• NP_665861.1:p.Arg490Ter
• LRG_302t1:c.1555C>T
• LRG_302:g.58893C>T
• LRG_302p1:p.Arg519Ter
• NC_000022.10:g.29083962G>A
• NG_008150.1:g.58861C>T
• NM_001005735.1:c.1684C>T
• NM_007194.3:c.1555C>T
• p.Arg519Stop
• p.R519*

This HGVS expression did not pass validation

Protein change:

R298*

Links:

dbSNP: rs200432447

NCBI 1000 Genomes Browser:

rs200432447

Molecular consequence:

• NM_001005735.2:c.1684C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001257387.2:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001349956.2:c.1354C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_007194.4:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_145862.2:c.1468C>T - nonsense - [Sequence Ontology: SO:0001587]