All transcript variants in 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.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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     

Owner     
+/+ _1_10i c.(?_-200)_(3113+1_3114-1)del - r.0? p.0? FA g.(23625413_23632682)_(23652678_?)del - c.-200-?_3113+?del - PALB2_000002 - PubMed: Ameziane 2008 ClinVar-126574 - Germline ? - - 0 - Johan de Winter
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del - r.spl? p.? FA g.(23637719_23640524)_(23649451_23652430)del - g.23649450_23640525del - PALB2_000001 inherited from paternal allele (MLPA of EUFA1341 and father suggest deletion 1 copy exons 2-6) PubMed: Xia 2007 - - Unknown ? - - 0 - Arleen D. Auerbach
+/+ 4 c.395del - r.(?) p.(Val132Alafs*45) FA g.23647472del g.23636151del - - PALB2_000003 - PubMed: Reid 2007 ClinVar-126748 rs180177085 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 4 c.757_758del - r.(?) p.(Leu253Ilefs*3) FA g.23647109_23647110del g.23635788_23635789del - - PALB2_000005 - PubMed: Reid 2007 ClinVar-126768 rs180177092 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 24 c.1653T>A - r.(?) p.(Tyr551*) FA g.23646214A>T g.23634893A>T - - PALB2_000015 - PubMed: Ameziane 2008 - rs118203997 Unknown ? - - 0 - Johan de Winter
+/+ 4 c.1653T>A - r.(?) p.(Tyr551*) FA g.23646214A>T g.23634893A>T - - PALB2_000015 Francis Lach: 1802T>A does not correspond with change Y551*; AA551 confirmed to be Y; correct nomenclature probably c.1653T>A, theoretically results in observed protein change; c.1802 in exon 5; hemizygous?, from maternal allele PubMed: Xia 2007 - rs118203997 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 5 c.2257C>T - r.(?) p.(Arg753*) FA g.23641218G>A g.23629897G>A - - PALB2_000007 - PubMed: Reid 2007 - rs180177110 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 5 c.2393_2394insCT - r.(?) p.(Thr799Leufs*53) FA g.23641081_23641082insAG g.23629760_23629761insAG - - PALB2_000009 - PubMed: Reid 2007 ClinVar-126651 rs180177113 Germline ? - - 0 - Arleen D. Auerbach
+/+ 6 c.2521del - r.(?) p.(Thr841Glnfs*10) FA g.23640590del g.23629269del - - PALB2_000011 - PubMed: Reid 2007 ClinVar-126659 rs180177116 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 9 c.2962C>T - r.(?) p.(Gln988*) FA g.23634324G>A g.23623003G>A - - PALB2_000013 - PubMed: Reid 2007 - rs118203999 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 10i c.3113+5G>C - r.2835_3113del p.Ala946fs* FA g.23632678C>G g.23621357C>G - - PALB2_000004 - PubMed: Reid 2007 - - Unknown ? - - 0 - Arleen D. Auerbach
+/+ 11 c.3116del - r.(?) p.(Asn1039Ilefs*2) FA g.23625410del g.23614089del - - PALB2_000014 - PubMed: Reid 2007 ClinVar-126715 rs180177133 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 12 c.3294_3298del - r.(?) p.(Lys1098Asnfs*23) FA g.23619237_23619241del g.23607916_23607920del - - PALB2_000006 - PubMed: Reid 2007 - rs180177134 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 12 c.3323del - r.(?) p.(Tyr1108Serfs*16) FA g.23619212del g.23607891del - - PALB2_000012 - PubMed: Reid 2007 ClinVar-126734 rs180177135 Unknown ? - - 0 - Arleen D. Auerbach
+/? 12i c.3350+4A>G - r.3350_3350+1insgcag p.Phe1118fs* FA g.23619181T>C g.23607860T>C - - PALB2_000010 - PubMed: Reid 2007 ClinVar-126737 rs180177136 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 13 c.3549C>A - r.(?) p.(Tyr1183*) FA g.23614792G>T g.23603471G>T - - PALB2_000016 - PubMed: Reid 2007 - rs118203998 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 13 c.3549C>G - r.(?) p.(Tyr1183*) FA g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Reid 2007 ClinVar-1245 rs118203998 Unknown ? - - 0 - Arleen D. Auerbach
+/+ 14 c.3549C>G - r.(?) p.(Tyr1183*) FA g.23614792G>C g.23603471G>C - - PALB2_000008 - PubMed: Reid 2007 ClinVar-1245 rs118203998 Unknown ? - - 0 - Arleen D. Auerbach
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