ClinVar

NM_007194.4(CHEK2):c.909-19C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28699956 (on Assembly GRCh38)
• Chr22: 29095944 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.909-19C>T

HGVS:

• NC_000022.11:g.28699956G>A
• NG_008150.2:g.46911C>T
• NM_001005735.2:c.1038-19C>T
• NM_001257387.2:c.246-19C>T
• NM_001349956.2:c.708-19C>T
• NM_007194.4:c.909-19C>TMANE SELECT
• NM_145862.2:c.909-19C>T
• LRG_302t1:c.909-19C>T
• LRG_302:g.46911C>T
• NC_000022.10:g.29095944G>A
• NG_008150.1:g.46879C>T
• NM_007194.3:c.909-19C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555915594

NCBI 1000 Genomes Browser:

rs1555915594

Molecular consequence:

• NM_001005735.2:c.1038-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257387.2:c.246-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349956.2:c.708-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007194.4:c.909-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_145862.2:c.909-19C>T - intron variant - [Sequence Ontology: SO:0001627]