Variant details: 16 23647211 T/C (GRCH37)
| GRCH37 genomic region | 16:23647211-23647211 |
|---|---|
| GRCH38 genomic region | 16:23635890-23635890 |
| Gene(s) | PALB2 (- strand) |
| HGVSc | c.656A>G (NM_024675.4 ) |
| HGVSp | p.(Asp219Gly) |
| Reference sequence | TTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACT |
| Non-cancer gnomAD AF | 0.000198478 0.000198478 |
| Custom-max gnomAD AF | 0.000331165 |
| Existing variants | rs45594034,CM1314596 |
| PubMed | 17200668 19763884 21618343 23448497 23935836 26283626 20122277 |
| Synonyms | ClinVar::RCV000855601,RCV000589693,RCV000129603,RCV000114652,VCV000126763 UniProt::VAR_066362 |
| 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