Variant details: 17 41215888 T/G (GRCH37)
| GRCH37 genomic region | 17:41215888-41215888 |
|---|---|
| GRCH38 genomic region | 17:43063871-43063871 |
| Gene(s) | BRCA1 (- strand) |
| HGVSc | c.5152+3A>C (NM_007294.4 ) |
| HGVSp | |
| Reference sequence | GGGAGAAATAGTATTATACTTACAGAAATAGCTAACTACCC |
| Non-cancer gnomAD AF | Not available in gnomAD Exomes |
| Custom-max gnomAD AF | Not available in gnomAD Exomes |
| Existing variants | rs80358124,CS035788 |
| PubMed | 12928470 |
| Synonyms | ClinVar::RCV000112517,VCV000055425 |
| 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