Variant details: 17 56440957 C/T (GRCH37)
| GRCH37 genomic region | 17:56440957-56440957 |
|---|---|
| GRCH38 genomic region | 17:58363596-58363596 |
| Gene(s) | RNF43 (- strand) |
| HGVSc | c.380G>A (NM_017763.6 ) |
| HGVSp | p.(Arg127Gln) |
| Reference sequence | CTCCTCGCTCACCCGCCATCCGAGCCTGCAGAGGCACACAG |
| Non-cancer gnomAD AF | 0.000677005 0.000677005 |
| Custom-max gnomAD AF | 0.00820665 |
| Existing variants | rs35219874,COSV68459232,COSV68459305 |
| PubMed | |
| Synonyms | COSMIC::COSM3520127 COSMIC::COSM249075 |
| Expert group classification | |
| ClinVar classification |
Conflicting classifications of pathogenicity
criteria provided, conflicting classifications
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant
This variant was found in .. individuals:
Transcripts