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.

44 entries on 1 page. Showing entries 1 - 44.
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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.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Rahman 2007 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Garcia 2009 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Blanco2012 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Blanco2013 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Bogdanova2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Cao2009 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Ding2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Ding2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Erkko2007 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Hellebrand2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Hofstatter2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Kuusisto2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Papi2010 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Prokofyeva2012 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Silvestri2010 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Sluiter2009 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Teo2013 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Tischkowitz2008 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Tischkowitz2012 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Wong-Brown2013 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Wong2011 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Xia2007 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Zheng2012 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA ? - - cancer, breast - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Aoude 2014 ClinVar-126613 rs152451 Unknown - 33/201 TaqI+ - - DNA SEQ - - CMM10 - - - ? - Australia - - - - - 33 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Nguyen-Dumont 2013 ClinVar-126613 rs152451 Unknown - - TaqI+ - - DNA SEQ - - cancer, breast - - - F - Australia - - - - - 14 Marc Tischkowitz
-?/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - likely benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Phuah 2013 ClinVar-126613 rs152451 Unknown - - TaqI+ - - DNA SEQ - - cancer, breast - - - F - Malaysia;Singapore - - - - - 394 Marc Tischkowitz
-/- 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Catucci 2014 ClinVar-126613 rs152451 Germline - - TaqI+ - - DNA SEQ - - cancer, breast - - - - - - - - - - - 126 Marc Tischkowitz
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C PALB2(NM_024675.3):c.1676A>G (p.Q559R), PALB2(NM_024675.4):c.1676A>G (p.Q559R) - PALB2_010081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C PALB2(NM_024675.3):c.1676A>G (p.Q559R), PALB2(NM_024675.4):c.1676A>G (p.Q559R) - PALB2_010081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 2286/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2286 Yukihide Momozawa
-/. 4 c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 3450/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 3450 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Both (homozygous) - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 331/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 331 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Both (homozygous) - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 428/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 428 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Both (homozygous) - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 2/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 2 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 19/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 19 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Both (homozygous) - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 554/12487 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 554 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Parent #1 - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs152451 Germline - 4017/12487 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 4017 Yukihide Momozawa
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C PALB2(NM_024675.3):c.1676A>G (p.Q559R), PALB2(NM_024675.4):c.1676A>G (p.Q559R) - PALB2_010081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C PALB2(NM_024675.3):c.1676A>G (p.Q559R), PALB2(NM_024675.4):c.1676A>G (p.Q559R) - PALB2_010081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - - - - 1 Maximiliano Zeballos
-/. 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 4 c.1676A>G r.(?) p.(Gln559Arg) - Unknown - benign g.23646191T>C g.23634870T>C - - PALB2_010081 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - - - - 1 Maximiliano Zeballos
-?/. - c.1676A>G - p.(Gln559Arg) - Unknown - NA g.23646191T>C g.23634870T>C - - PALB2_010081 expression cloning HR efficiency 95,02%, PARPi resistance 117,58% PubMed: Boonen 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1676A>G - p.(Gln559Arg) - Unknown - NA g.23646191T>C g.23634870T>C - - PALB2_010081 expression cloning relative homology directed repair 5.0 PubMed: Wiltshire 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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