ClinVar

NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28725253 (on Assembly GRCh38)
• Chr22: 29121241 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)

Other names:

p.R145Q:CGG>CAG

HGVS:

• NC_000022.11:g.28725253C>T
• NG_008150.2:g.21614G>A
• NM_001005735.2:c.563G>A
• NM_001257387.2:c.-344G>A
• NM_001349956.2:c.434G>A
• NM_007194.4:c.434G>AMANE SELECT
• NM_145862.2:c.434G>A
• NP_001005735.1:p.Arg188Gln
• NP_001336885.1:p.Arg145Gln
• NP_009125.1:p.Arg145Gln
• NP_665861.1:p.Arg145Gln
• LRG_302t1:c.434G>A
• LRG_302:g.21614G>A
• LRG_302p1:p.Arg145Gln
• NC_000022.10:g.29121241C>T
• NG_008150.1:g.21582G>A
• NM_007194.3:c.434G>A
• NM_007194.4:c.434G>A
• p.R145Q

This HGVS expression did not pass validation

Protein change:

R145Q

Links:

dbSNP: rs587781667

NCBI 1000 Genomes Browser:

rs587781667

Molecular consequence:

• NM_001257387.2:c.-344G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001005735.2:c.563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]