ClinVar

NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28725028 (on Assembly GRCh38)
• Chr22: 29121016 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)

HGVS:

• NC_000022.11:g.28725028G>A
• NG_008150.1:g.21807C>T
• NG_008150.2:g.21839C>T
• NM_001005735.2:c.670C>T
• NM_001257387.2:c.-237C>T
• NM_001349956.2:c.445-105C>T
• NM_007194.4:c.541C>TMANE SELECT
• NM_145862.2:c.541C>T
• NP_001005735.1:p.Arg224Cys
• NP_009125.1:p.Arg181Cys
• NP_665861.1:p.Arg181Cys
• LRG_302t1:c.541C>T
• LRG_302:g.21839C>T
• LRG_302p1:p.Arg181Cys
• NC_000022.10:g.29121016G>A
• NM_007194.3:c.541C>T
• O96017:p.Arg181Cys
• p.R181C

This HGVS expression did not pass validation

Protein change:

R181C; ARG181CYS

Links:

UniProtKB: O96017#VAR_019104; OMIM: 604373.0008; dbSNP: rs137853010

NCBI 1000 Genomes Browser:

rs137853010

Molecular consequence:

• NM_001257387.2:c.-237C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001349956.2:c.445-105C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005735.2:c.670C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]