View transcript #00000041

Transcript name partner and localizer of BRCA2
Gene name PALB2 (partner and localizer of BRCA2)
Chromosome 16
Transcript - NCBI ID NM_024675.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_078951.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

125 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
+?/+? 11 exon 11 dup =(?) Hetero no =(?)
?/? 1-12 exons 1-12 duplication p.(?) Hetero no r.(?)
+/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?)
+/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?)
+/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?)
+/+ 1 c.43G>T p.(Glu15*) Hetero N/A r.(?)
?/? 4 c.896C>T p.(Ser299Phe) Hetero no r.(?)
./-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?)
?/-? 4 c.1010T>C p.(Leu337Ser) Hetero BRCA1 r.(?)
-/-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?)
?/-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?)
+/+ 4 c.1042C>T p.(Gln348*) Hetero N/A r.(?)
+/+ 4 c.1192del p.(Val398Cysfs*26) Hetero N/A r.(?)
?/? 4 c.1222T>C p.(Tyr408His) Hetero no r.(?)
./+ 4 c.1240C>T p.(Arg414*) Hetero N/A r.(?)
+/+ 4 c.1240C>T p.(Arg414*) Hetero P53 r.(?)
?/-? 4 c.1273G>A p.(Val425Met) Hetero no r.(?)
./-? 4 c.1572A>G p.(=) Hetero no r.(=)
+/+ 4 c.1592del p.(Leu531Cysfs*30) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero BRCA2 r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Homo no r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
./- 4 c.1676A>G p.(Gln559Arg) Not specified ATM r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
./- 4 c.1676A>G p.(Gln559Arg) Not specified no r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
./- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
-/-? 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
./- 4 c.1676A>G p.(Gln559Arg) Not specified no r.(?)
-/-? 4 c.1676A>G p.(Gln559Arg) Hetero BRCA1 r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
-/-? 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero BRCA2 r.(?)
-/- 4 c.1676A>G p.(Gln559Arg) Hetero BRCA2 r.(?)
./- 4 c.1676A>G p.(Gln559Arg) Homo no r.(?)
-/-? 5 c.1767G>A p.(=) Hetero no r.(=)
+?/+ 5 c.1838delA p.(Gln613Argfs*15) Hetero no r.(?)
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?)
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?)
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?)
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
./-? 5 c.2014G>C p.(Glu672Gln) Not specified ATM r.(?)
./-? 5 c.2014G>C p.(Glu672Gln) Not specified no r.(?)
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
./-? 5 c.2014G>C p.(Glu672Gln) Not specified no r.(?)
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero BRCA2 r.(?)
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?)
./- 5 c.2014G>C p.(Glu672Gln) Homo no r.(?)
?/? 5 c.2078A>T p.(His693Leu) Hetero no r.(?)
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?)
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?)
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?)
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?)
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?)
+/+ 5 c.2257C>T p.(Arg753*) Hetero N/A r.(?)
+/+ 5 c.2336C>G p.(Ser779*) Hetero N/A r.(?)
+/+ 5 c.2336C>G p.(Ser779*) Hetero N/A r.(?)
+/+ 5 c.2336C>G p.(Ser779*) Hetero ATM r.(?)
?/? 5 c.2506G>A p.(Val836Ile) Hetero no r.(?)
-?/-? 7 c.2590C>T p.(Pro864Ser) Hetero no r.(?)
-/-? 8 c.2794G>A p.(Val932Met) Hetero no r.(?)
+/. 9 c.2872_2875del p.(Gln958Tyrfs*3) Hetero no r.(?)
+/+ 9 c.2964del p.(Val989*) Hetero N/A r.(?)
+/+ 9 c.2964delA p.(Val989*) Hetero N/A r.(?)
+/+ 9 c.2964delA p.(Val989*) Hetero N/A r.(?)
+/+ 9 c.2964delA p.(Val989*) Hetero N/A r.(?)
-?/-? 9 c.2993G>A p.(Gly998Glu) Hetero no r.(?)
./-? 9 c.2993G>A p.(Gly998Glu) Not specified ATM r.(?)
-/-? 9 c.2993G>A p.(Gly998Glu) Hetero no r.(?)
-?/-? 9 c.2993G>A p.(Gly998Glu) Hetero no r.(?)
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