Variant #0000003957 (NC_000016.10:g.23624049C>T, PALB2(NM_024675.3):c.2794G>A)

Individual ID 00000497
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23624049C>T
Reference -
DB-ID PALB2_000012
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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 -/-? 8 c.2794G>A p.(Val932Met) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000561 DNA SEQ-NG CEMIC Panel CEMIC 3-jan-2018 - ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53 18 Pablo Kalfayan-Hospital Italiano