ClinVar

NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28734552 (on Assembly GRCh38)
• Chr22: 29130540 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)

Other names:

p.S57F:TCT>TTT

HGVS:

• NC_000022.11:g.28734552G>A
• NG_008150.2:g.12315C>T
• NM_001005735.2:c.170C>T
• NM_001257387.2:c.-608C>T
• NM_001349956.2:c.170C>T
• NM_007194.4:c.170C>TMANE SELECT
• NM_145862.2:c.170C>T
• NP_001005735.1:p.Ser57Phe
• NP_001336885.1:p.Ser57Phe
• NP_009125.1:p.Ser57Phe
• NP_665861.1:p.Ser57Phe
• LRG_302t1:c.170C>T
• LRG_302:g.12315C>T
• LRG_302p1:p.Ser57Phe
• NC_000022.10:g.29130540G>A
• NG_008150.1:g.12283C>T
• NM_007194.3:c.170C>T

This HGVS expression did not pass validation

Protein change:

S57F

Links:

dbSNP: rs730881695

NCBI 1000 Genomes Browser:

rs730881695

Molecular consequence:

• NM_001257387.2:c.-608C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001005735.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1