ClinVar

NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28694066 (on Assembly GRCh38)
• Chr22: 29090054 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)

Other names:

p.T476M:ACG>ATG

HGVS:

• NC_000022.11:g.28694066G>A
• NG_008150.2:g.52801C>T
• NM_001005735.2:c.1556C>T
• NM_001257387.2:c.764C>T
• NM_001349956.2:c.1226C>T
• NM_007194.4:c.1427C>TMANE SELECT
• NM_145862.2:c.1340C>T
• NP_001005735.1:p.Thr519Met
• NP_001244316.1:p.Thr255Met
• NP_001336885.1:p.Thr409Met
• NP_009125.1:p.Thr476Met
• NP_665861.1:p.Thr447Met
• LRG_302t1:c.1427C>T
• LRG_302:g.52801C>T
• LRG_302p1:p.Thr476Met
• NC_000022.10:g.29090054G>A
• NG_008150.1:g.52769C>T
• NM_001005735.1:c.1556C>T
• NM_007194.3:c.1427C>T
• p.T476M

This HGVS expression did not pass validation

Protein change:

T255M

Links:

dbSNP: rs142763740

NCBI 1000 Genomes Browser:

rs142763740

Molecular consequence:

• NM_001005735.2:c.1556C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257387.2:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.1226C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1