Variant #0000008928 (NC_000016.10:g.23629818G>C, PALB2(NM_024675.3):c.2336C>G)

Individual ID 00001589
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23629818G>C
Reference -
DB-ID PALB2_000025 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvia Avila-Cons. y Lab. de Genetica
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 +/+ 5 c.2336C>G p.(Ser779*) Hetero ATM r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001862 DNA SEQ-NG Color Hereditary Cancer Risk Test (30 genes) 28-Jan-2021 Multigenetic panel - 2 Silvia Avila-Cons. y Lab. de Genetica