Full data view for gene PALB2

Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_024675.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+ 4 c.688G>T r.(?) p.(Glu230*) - Unknown - likely pathogenic g.23647179C>A g.23635858C>A - - PALB2_010321 - PubMed: Couch 2015 - rs730881905 Unknown - - LpnPI- 0 - DNA SEQ - - cancer, breast - PubMed: Couch 2015 - F - United States - - 0 - - 1 Marc Tischkowitz
+/. - c.688G>T - p.(Glu230*) - Unknown - NA g.23647179C>A g.23635858C>A - - PALB2_010321 expression cloning HR efficiency 7,42%, PARPi resistance 17,50% PubMed: Boonen 2019 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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