Variant details: 12 25368462 C/T (GRCH37)
| GRCH37 genomic region | 12:25368462-25368462 |
|---|---|
| GRCH38 genomic region | -:-1--1 |
| Gene(s) | KRAS (- strand) |
| HGVSc | c.451-5617G>A (NM_004985.5 ) |
| HGVSp | |
| Reference sequence | AATCTGTATTGTCGGATCTCCCTCACCAATGTATAAAAAGC |
| Non-cancer gnomAD AF | 0.999603 0.999603 |
| Custom-max gnomAD AF | 1.0 |
| Existing variants | rs4362222,COSV55501936 |
| PubMed | 25741868 24033266 18470943 |
| Synonyms | ClinVar::RCV000150886,VCV000163759,RCV000149847,RCV000039808,VCV000046538,RCV000988801 COSMIC::COSM6474349 |
| Expert group classification | |
| ClinVar classification |
Benign
criteria provided, multiple submitters, no conflicts
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant in their germline
This variant was found in .. individuals:
Transcripts