View genomic variant #0000006861

Individual ID 00001172
Chromosome 17
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.7676154G>C
Reference -
DB-ID TP53_000001 See all 33 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pablo Kalfayan-Hospital Italiano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
TP53 NM_000546.5 -/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001399 DNA SEQ-NG CEMIC - 25-nov-2019 Multigenetic panel BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, TP53 21 Pablo Kalfayan-Hospital Italiano