ClinVar

NM_007194.4(CHEK2):c.1008+71A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28699767 (on Assembly GRCh38)
• Chr22: 29095755 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.1008+71A>G

Other names:

chr22:29,095,755T>C

HGVS:

• NC_000022.11:g.28699767T>C
• NG_008150.1:g.47068A>G
• NG_008150.2:g.47100A>G
• NM_001005735.2:c.1137+71A>G
• NM_001257387.2:c.345+71A>G
• NM_001349956.2:c.807+71A>G
• NM_007194.4:c.1008+71A>GMANE SELECT
• NM_145862.2:c.1008+71A>G
• LRG_302t1:c.1008+71A>G
• LRG_302:g.47100A>G
• NC_000022.10:g.29095755T>C
• NM_007194.3:c.1008+71A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs121908713

NCBI 1000 Genomes Browser:

rs121908713

Molecular consequence:

• NM_001005735.2:c.1137+71A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257387.2:c.345+71A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349956.2:c.807+71A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_007194.4:c.1008+71A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_145862.2:c.1008+71A>G - intron variant - [Sequence Ontology: SO:0001627]