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.

17 entries on 1 page. Showing entries 1 - 17.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) FA Parent #2 - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Reid 2007 ClinVar-1245 rs118203998 Unknown ? - - - - DNA SEQ - - FANCN - - Patient's sample not available; mutation identified from parental sample. ? ? - British - - - - 1 Arleen D. Auerbach
+/+ 14 c.3549C>G r.(?) p.(Tyr1183*) FA Parent #2 - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Reid 2007 ClinVar-1245 rs118203998 Unknown ? - - - - DNA SEQ - - FANCN - - - ? ? United States North American - - - - 1 Arleen D. Auerbach
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Reid 2007 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA MCA - - cancer, breast, FANCN, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Rahman 2007 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA MCA - - cancer, breast, FANCN, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Hofstatter2011 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA MCA - - cancer, breast, FANCN, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Tischkowitz2012 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA MCA - - cancer, breast, FANCN, PNCA3 - - - F - - - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Ding2011 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA MCA - - cancer, breast, FANCN, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Jones2009 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA MCA - - cancer, breast, FANCN, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Parent #1 - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Aoude 2014 ClinVar-1245 rs118203998 Germline - 1/201 AccI-, BstZ17I-, Hpy166II- - - DNA SEQ - - CMM10 - - - M - Australia - - - - - 1 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Parent #1 - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Fernandes 2014 ClinVar-1245 rs118203998 Unknown - - AccI-, BstZ17I-, Hpy166II- - - DNA SEQ - - cancer, breast - - - - - - - - - - - 3 Marc Tischkowitz
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Reid 2007; contributed by Fanconi Anemia database ClinVar-1245 rs118203998 Germline - - - - - DNA SEQ - - FANCN - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 5 families PubMed: Antoniou 2014 ClinVar-1245 rs118203998 Germline - - AccI-, BstZ17I-, Hpy166II- - - DNA SEQ - - cancer, breast - - - - - - - - - - - 5 Marc Tischkowitz
+?/+ 13 c.3549C>G r.(?) p.(Tyr1183*) - Unknown - likely pathogenic g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Couch 2015 ClinVar-1245 rs118203998 Unknown - - AccI-, BstZ17I-, Hpy166II- - - DNA SEQ - - cancer, breast - PubMed: Couch 2015 - F - - - - - - - 1 Marc Tischkowitz
+/. - c.3549C>G - p.(Tyr1183*) - Unknown - NA g.23614792G>C g.23603471G>C - - PALB2_000008 expression cloning HR efficiency 11,12%, PARPi resistance 9,67%, cisplatin resistance 19,53%, normalised cells 344,61% PubMed: Boonen 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C - PALB2(NM_024675.3):c.3549C>G (p.(Tyr1183Ter)), PALB2(NM_024675.4):c.3549C>G (p.Y1183*) - PALB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C - PALB2(NM_024675.3):c.3549C>G (p.(Tyr1183Ter)), PALB2(NM_024675.4):c.3549C>G (p.Y1183*) - PALB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3549C>G r.(?) p.(Tyr1183*) - Unknown - pathogenic g.23614792G>C - PALB2(NM_024675.3):c.3549C>G (p.(Tyr1183Ter)), PALB2(NM_024675.4):c.3549C>G (p.Y1183*) - PALB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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