Variant #0000003085 (NC_000016.10:g.23621440G>A, PALB2(NM_024675.3):c.3035C>T)

Individual ID 00000384
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.23621440G>A
Reference -
DB-ID PALB2_000011
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rita Valdez-Hospital Alemán
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 ?/? 10 c.3035C>T p.(Thr1012Ile) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000437 DNA SEQ-NG Genesia - Progenitest;COLOR Hereditary Cancer Risk Test (30 genes) 17-nov-2017 Multigenetic panel - 3 Rita Valdez-Hospital Alemán