ClinVar

NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28689152 (on Assembly GRCh38)
• Chr22: 29085140 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)

Other names:

p.P509S:CCC>TCC

HGVS:

• NC_000022.11:g.28689152G>A
• NG_008150.2:g.57715C>T
• NM_001005735.2:c.1654C>T
• NM_001257387.2:c.862C>T
• NM_001349956.2:c.1324C>T
• NM_007194.4:c.1525C>TMANE SELECT
• NM_145862.2:c.1438C>T
• NP_001005735.1:p.Pro552Ser
• NP_001244316.1:p.Pro288Ser
• NP_001336885.1:p.Pro442Ser
• NP_009125.1:p.Pro509Ser
• NP_665861.1:p.Pro480Ser
• LRG_302t1:c.1525C>T
• LRG_302:g.57715C>T
• LRG_302p1:p.Pro509Ser
• NC_000022.10:g.29085140G>A
• NM_007194.3:c.1525C>T
• p.P509S

This HGVS expression did not pass validation

Protein change:

P288S

Links:

dbSNP: rs587780179

NCBI 1000 Genomes Browser:

rs587780179

Molecular consequence:

• NM_001005735.2:c.1654C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257387.2:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.1324C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.1525C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.1438C>T - missense variant - [Sequence Ontology: SO:0001583]