ClinVar

NM_007194.4(CHEK2):c.129C>A (p.Thr43=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28734593 (on Assembly GRCh38)
• Chr22: 29130581 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.129C>A (p.Thr43=)

HGVS:

• NC_000022.11:g.28734593G>T
• NG_008150.2:g.12274C>A
• NM_001005735.2:c.129C>A
• NM_001257387.2:c.-649C>A
• NM_001349956.2:c.129C>A
• NM_007194.4:c.129C>AMANE SELECT
• NM_145862.2:c.129C>A
• NP_001005735.1:p.Thr43=
• NP_001336885.1:p.Thr43=
• NP_009125.1:p.Thr43=
• NP_665861.1:p.Thr43=
• LRG_302t1:c.129C>A
• LRG_302:g.12274C>A
• LRG_302p1:p.Thr43=
• NC_000022.10:g.29130581G>T
• NG_008150.1:g.12242C>A
• NM_007194.3:c.129C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs786202779

NCBI 1000 Genomes Browser:

rs786202779

Molecular consequence:

• NM_001257387.2:c.-649C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001005735.2:c.129C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349956.2:c.129C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007194.4:c.129C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145862.2:c.129C>A - synonymous variant - [Sequence Ontology: SO:0001819]