Variant #0000006586 (NC_000016.10:g.23622972C>T, PALB2(NM_024675.3):c.2993G>A)

Individual ID 00001048
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.23622972C>T
Reference -
DB-ID PALB2_000008 See all 10 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital 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     

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Co_ocurrence     

RNA change     

Review status     
PALB2 NM_024675.3 -/-? 9 c.2993G>A p.(Gly998Glu) Hetero BRCA2 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001254 DNA SEQ-NG CEMIC - 4-aug-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, PTEN, TP53 15 Claudia Martin-Hospital de Córdoba