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 |
This variant was found in .. individuals: