Variant #0000007025 (NC_000016.10:g.23634870T>C, PALB2(NM_024675.3):c.1676A>G)

Individual ID 00001258
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23634870T>C
Reference -
DB-ID PALB2_000004 See all 17 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.1676A>G p.(Gln559Arg) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001497 DNA CNV;SEQ-NG IACA - 9-dec-2019 Multigenetic panel ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53 15 Silvina Sisterna-Hospital de Comunidad