Variant #0000009049 (NC_000016.10:g.23641151C>A, PALB2(NM_024675.3):c.7G>T)

Individual ID 00001729
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23641151C>A
Reference -
DB-ID PALB2_000003 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez-CEMAFE
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
PALB2 NM_024675.3 +/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002008 DNA SEQ-NG Genda Panel Genda (88 genes) 04-nov-2020 Multigenetic panel - 1 Marcela Lopez-CEMAFE