Transcript #00000027 (NM_001256849.1, POLD1 gene)

Transcript name polymerase (DNA directed), delta 1, catalytic subunit, transcript variant 1
Gene name POLD1 (DNA polymerase delta 1, catalytic subunit)
Chromosome 19
Transcript - NCBI ID NM_001256849.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001243778.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
./? 24 exon 24 duplication p.(?) Unknown no r.(?) -
?/? 2 c.80A>T p.(Asp27Val) Hetero CHEK2 r.(80a>u) -
-?/-? 3 c.208G>T p.(Val70Phe) Hetero no r.(?) -
?/? 3 c.208G>T p.(Val70Phe) Hetero no r.(208g>u) -
?/? 3 c.224T>C p.(Ile75Thr) Hetero no r.(?) -
?/? 3 c.227A>G p.(Asp76Gly) Hetero PALB2 r.(227a>g) -
?/? 3 c.227A>G p.(Asp76Gly) Hetero PALB2 r.(?) -
?/-? 4 c.455C>T p.(Ala152Val) Hetero no r.(?) RECLASSIFIED JULY 2022
?/? 8 c.883G>A p.(Val295Met) Hetero no r.(883g>a) -
?/? 9 c.992G>A p.(Arg331Gln) Hetero no r.(?) -
?/? 11 c.1322C>T p.(Thr441Met) Hetero no r.(1322c>u) -
-/- 12 c.1485C>T p.(=) Hetero no r.(=) -
?/-? 19 c.2275G>A p.(Val759Ile) Hetero no r.(?) -
?/- 19 c.2275G>A p.(Val759Ile) Hetero no r.(2275g>a) RECLASSIFIED JULY 2022
-/- 23i c.2953+12C>T p.(=) Hetero no r.(=) -
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