ClinVar

NM_007194.4(CHEK2):c.444+19T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28725224 (on Assembly GRCh38)
• Chr22: 29121212 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.444+19T>C

HGVS:

• NC_000022.11:g.28725224A>G
• NG_008150.2:g.21643T>C
• NM_001005735.2:c.573+19T>C
• NM_001257387.2:c.-334+19T>C
• NM_001349956.2:c.444+19T>C
• NM_007194.4:c.444+19T>CMANE SELECT
• NM_145862.2:c.444+19T>C
• LRG_302t1:c.444+19T>C
• LRG_302:g.21643T>C
• NC_000022.10:g.29121212A>G
• NG_008150.1:g.21611T>C
• NM_007194.3:c.444+19T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs200501745

NCBI 1000 Genomes Browser:

rs200501745

Molecular consequence:

• NM_001005735.2:c.573+19T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257387.2:c.-334+19T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349956.2:c.444+19T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_007194.4:c.444+19T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_145862.2:c.444+19T>C - intron variant - [Sequence Ontology: SO:0001627]