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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
?/. - c.3116del r.(?) p.(Asn1039Ilefs*2) - Parent #1 - NA g.23625411del - chr16_23625409_AT_A - PALB2_000014 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 12/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 12 BRIDGES consortium
?/. - c.3116del r.(?) p.(Asn1039Ilefs*2) - Parent #1 - NA g.23625411del - chr16_23625409_AT_A - PALB2_000014 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) FA Parent #1 - pathogenic g.23625411del g.23614090del - - PALB2_000014 - PubMed: Reid 2007 ClinVar-126715 rs180177133 Unknown ? - - 0 - DNA SEQ - - FANCN - - - ? ? United States North American - 0 - - 1 Arleen D. Auerbach
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - pathogenic g.23625411del g.23614090del - - PALB2_000014 - PubMed: Jones2009 ClinVar-126715 rs180177133 Germline - - ApoI-, MluCI- 0 - DNA ? - - cancer, breast, FANCN, PNCA3 - - - - - - - - 0 - - 1 Marc Tischkowitz
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - pathogenic g.23625411del g.23614090del - - PALB2_000014 - PubMed: Garcia2009 ClinVar-126715 rs180177133 Germline - - ApoI-, MluCI- 0 - DNA ? - - cancer, breast, FANCN, PNCA3 - - - - - - - - 0 - - 1 Marc Tischkowitz
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - pathogenic g.23625411del g.23614090del - - PALB2_000014 - PubMed: Reid 2007 ClinVar-126715 rs180177133 Germline - - ApoI-, MluCI- 0 - DNA ? - - cancer, breast, FANCN, PNCA3 - - - - - - - - 0 - - 1 Marc Tischkowitz
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - pathogenic g.23625411del g.23614090del - - PALB2_000014 - PubMed: Rahman 2007 ClinVar-126715 rs180177133 Germline - - ApoI-, MluCI- 0 - DNA ? - - cancer, breast, FANCN, PNCA3 - - - - - - - - 0 - - 1 Marc Tischkowitz
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - pathogenic g.23625411del g.23614090del c.3116delA - PALB2_000014 - PubMed: Reid 2007; contributed by Fanconi Anemia database ClinVar-126715 rs180177133 Germline - - - 0 - DNA SEQ - - FANCN - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - pathogenic g.23625411del g.23614090del - - PALB2_000014 5 families PubMed: Antoniou 2014 ClinVar-126715 rs180177133 Germline - - ApoI-, MluCI- 0 - DNA SEQ - - cancer, breast - - - - - - - - 0 - - 5 Marc Tischkowitz
+?/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) - Unknown - likely pathogenic g.23625411del g.23614090del c.3116delA - PALB2_000014 - PubMed: Couch 2015 ClinVar-126715 rs180177133 Unknown - - ApoI-, MluCI- 0 - DNA SEQ - - cancer, breast - PubMed: Couch 2015 - F - ? (unknown) - - 0 - - 1 Marc Tischkowitz
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