Variant #0000007881 (NC_000016.10:g.23630195A>T, PALB2(NM_024675.3):c.1959T>A)

Individual ID 00001377
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23630195A>T
Reference -
DB-ID PALB2_000018 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital Privado de Córdoba
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 +/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001626 DNA SEQ Hospital Privado Centro Médico de Córdoba - 17-apr-2020 Known familial mutation PALB2 1 Claudia Martin-Hospital Privado de Córdoba