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

This variant was found in .. individuals:

Transcripts