Variant details: 22 29120962 T/A (GRCH37)
| GRCH37 genomic region | 22:29120962-29120962 |
|---|---|
| GRCH38 genomic region | 22:28724974-28724974 |
| Gene(s) | CHEK2 (- strand) |
| HGVSc | c.592+3A>T (NM_007194.4 ) |
| HGVSp | |
| Reference sequence | TAACCATAAGATAATAATATTACCTTTATTTCTGCTTAGTG |
| Non-cancer gnomAD AF | 0.0000211131 0.0000211131 |
| Custom-max gnomAD AF | 0.0000389605 |
| Existing variants | rs587782849,CS1610907 |
| PubMed | 25741868 |
| Synonyms | ClinVar::RCV000656830,RCV001192410,RCV001171462,RCV000132447,VCV000142956,RCV000348008,RCV000228472 |
| Expert group classification | |
| ClinVar classification |
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant in their germline
This variant was found in .. individuals:
Transcripts