Variant details: 5 112176184 T/C (GRCH37)
| GRCH37 genomic region | 5:112176184-112176184 |
|---|---|
| GRCH38 genomic region | 5:112840487-112840487 |
| Gene(s) | APC (+ strand) |
| HGVSc | c.4893T>C (NM_000038.6 ) |
| HGVSp | p.(Ser1631=) |
| Reference sequence | CAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATAT |
| Non-cancer gnomAD AF | 0.000574611 0.000574611 |
| Custom-max gnomAD AF | 0.0078513 |
| Existing variants | rs35634377,COSV104379199 |
| PubMed | |
| Synonyms | ClinVar::RCV001083248,RCV000586060,RCV000123668,VCV000132688,RCV000388181,RCV000211917 COSMIC::COSM9266786 |
| Expert group classification | |
| ClinVar classification |
Benign/Likely 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