Variant #0000009420 (NC_000016.10:g.23635354del, PALB2(NM_024675.3):c.1192del)

Individual ID 00002176
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23635354del
Reference -
DB-ID PALB2_000038 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
PALB2 NM_024675.3 +/+ 4 c.1192del p.(Val398Cysfs*26) Hetero N/A r.(1192del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002467 DNA SEQ IACA - 23-09-22 Known familial mutation PALB2 1 Silvina Sisterna-Hospital de Comunidad