ClinVar

NM_007194.4(CHEK2):c.937G>C (p.Val313Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28699909 (on Assembly GRCh38)
• Chr22: 29095897 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.937G>C (p.Val313Leu)

HGVS:

• NC_000022.11:g.28699909C>G
• NG_008150.2:g.46958G>C
• NM_001005735.2:c.1066G>C
• NM_001257387.2:c.274G>C
• NM_001349956.2:c.736G>C
• NM_007194.4:c.937G>CMANE SELECT
• NM_145862.2:c.937G>C
• NP_001005735.1:p.Val356Leu
• NP_001244316.1:p.Val92Leu
• NP_001336885.1:p.Val246Leu
• NP_009125.1:p.Val313Leu
• NP_665861.1:p.Val313Leu
• LRG_302t1:c.937G>C
• LRG_302:g.46958G>C
• LRG_302p1:p.Val313Leu
• NC_000022.10:g.29095897C>G
• NM_007194.3:c.937G>C

This HGVS expression did not pass validation

Protein change:

V246L

Molecular consequence:

• NM_001005735.2:c.1066G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257387.2:c.274G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.937G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.937G>C - missense variant - [Sequence Ontology: SO:0001583]