Variant details: 17 7577121 G/A (GRCH37)
| GRCH37 genomic region | 17:7577121-7577121 |
|---|---|
| GRCH38 genomic region | 17:7673803-7673803 |
| Gene(s) | TP53 (- strand) |
| HGVSc | c.817C>T (NM_000546.6 ) |
| HGVSp | p.(Arg273Cys) |
| Reference sequence | CCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTC |
| Non-cancer gnomAD AF | 0.0000126899 0.0000126899 |
| Custom-max gnomAD AF | 0.0000565803 |
| Existing variants | rs121913343,CM010471,CM010473,CM951233,COSV52662066,COSV52670856,COSV52707054,COSV53164203 |
| PubMed | 24033266 23265383 25157968 26619011 30796655 9569050 15004724 16489069 18511570 19556618 23161690 24381225 24487413 24641375 7969167 10864200 11315715 11494139 28498966 |
| Synonyms | ClinVar::RCV001027249,RCV000561782,RCV000698744,RCV000814073,RCV000785470,RCV000785275,VCV000634682,RCV000205625,RCV000149051,RCV000144665,RCV000131966,VCV000043594,RCV000254692,RCV000445287,RCV000445314,RCV000444595,RCV000442470,RCV000440997,RCV000440794,RCV000439774,RCV000438218,RCV000436543,RCV000435480,RCV000435074,RCV000433489,RCV000432372,RCV000432002,RCV000431786,RCV000431455,RCV000431180,RCV000430119,RCV000427884,RCV000427515,RCV000425669,RCV000424918,RCV000422795,RCV000422550,RCV000421090,RCV000420482,RCV000420280,RCV000418085,VCV000376656 UniProt::VAR_005993 COSMIC::COSM10659 COSMIC::COSM43843 COSMIC::COSM43909 COSMIC::COSM44701 |
| Expert group classification | |
| ClinVar classification |
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant in their germline
This variant was found in .. individuals:
Transcripts