ClinVar

NM_007194.4(CHEK2):c.569C>T (p.Ala190Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28725000 (on Assembly GRCh38)
• Chr22: 29120988 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.569C>T (p.Ala190Val)

HGVS:

• NC_000022.11:g.28725000G>A
• NG_008150.2:g.21867C>T
• NM_001005735.2:c.698C>T
• NM_001257387.2:c.-209C>T
• NM_001349956.2:c.445-77C>T
• NM_007194.4:c.569C>TMANE SELECT
• NM_145862.2:c.569C>T
• NP_001005735.1:p.Ala233Val
• NP_009125.1:p.Ala190Val
• NP_665861.1:p.Ala190Val
• LRG_302t1:c.569C>T
• LRG_302:g.21867C>T
• LRG_302p1:p.Ala190Val
• NC_000022.10:g.29120988G>A
• NG_008150.1:g.21835C>T
• NM_007194.3:c.569C>T
• p.A190V

This HGVS expression did not pass validation

Protein change:

A190V

Links:

dbSNP: rs786203483

NCBI 1000 Genomes Browser:

rs786203483

Molecular consequence:

• NM_001257387.2:c.-209C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001349956.2:c.445-77C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005735.2:c.698C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1