Variant #0000008265 (NC_000016.10:g.23622972C>T, PALB2(NM_024675.3):c.2993G>A)

Individual ID 00001490
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 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
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 no r.(?) -



Screenings


AscendingScreening ID     

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Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001759 DNA SEQ-NG CEMIC - 25-sep-2019 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51D, TP53 20 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes