ClinVar

NM_007194.4(CHEK2):c.319+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28734402 (on Assembly GRCh38)
• Chr22: 29130390 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.319+1G>T

HGVS:

• NC_000022.11:g.28734402C>A
• NG_008150.2:g.12465G>T
• NM_001005735.2:c.319+1G>T
• NM_001257387.2:c.-459+1G>T
• NM_001349956.2:c.319+1G>T
• NM_007194.4:c.319+1G>TMANE SELECT
• NM_145862.2:c.319+1G>T
• LRG_302t1:c.319+1G>T
• LRG_302:g.12465G>T
• NC_000022.10:g.29130390C>A
• NM_007194.3:c.319+1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs765080766

NCBI 1000 Genomes Browser:

rs765080766

Molecular consequence:

• NM_001005735.2:c.319+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001257387.2:c.-459+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001349956.2:c.319+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_007194.4:c.319+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_145862.2:c.319+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1