Transcript #00000137 (NM_007194.4, CHEK2 gene)

Transcript name transcript variant 1
Gene name CHEK2 (checkpoint kinase 2)
Chromosome 22
Transcript - NCBI ID NM_007194.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_009125.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

28 entries on 1 page. Showing entries 1 - 28.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
+/+ 3-4 deletions of exons 3-4 p.? Hetero N/A r.? chr22∶29120863-29121366 ((hg19/GRCh37))
?/? 2 c.34T>A p.Ser12Thr Hetero no r.(34u>a) -
?/? 2 c.170C>G p.(Ser57Cys) Hetero no r.(170c>g) -
?/? 2 c.246_260del (p.Asp82_Glu86del) Hetero no r.? -
?/? 2 c.246_260del p.(Asp82_Glu86del) Hetero N/A r.(246_260del) -
?/? 2 c.246_260del p.(Asp82_Glu86del) Hetero no r.(246_260del) -
?/? 3 c.442A>G p.(Arg148Gly) Hetero no r.? -
+/+ 3i c.444+1G>A p.? Hetero N/A r.? -
?/? 4 c.470T>C p.Ile157Thr Hetero BRCA2;MUTYH r.(470u>c) -
+/+ 4 c.470T>C p.(Ile157Thr) Hetero N/A r.? LOW PENETRANCE. RISK FACTOR.
+/+ 4 c.470T>C p.(Ile157Thr) Hetero BRCA1 r.? -
+/+ 4 c.470T>C (p.Ile157Thr) Hetero N/A r.(470u>c) -
+/+ 4 c.470T>C p.(Ile157Thr) Hetero N/A r.? LOW PENETRANCE
+?/+? 4 c.483_485del p.(Glu161del) Hetero no r.(483_485del) -
+/+? 4 c.483_485del p.Glu161del Hetero N/A r.(483_485del) -
?/? 4 c.497A>G (p.Asn166Ser) Hetero no r.? -
+?/+? 4i c.592+3A>T p.? Hetero no r.? -
?/? 6 c.740C>A (p.Ala247Asp) Hetero no r.(740c>a) -
+/+ 7 c.793-1G>A p.spl? Hetero N/A r.spl? -
?/? 7 c.831G>C p.(Leu277Phe) Hetero no r.? -
+?/+? 7i c.846+4_846+7del p.? Hetero no r.? -
+/+ 11 c.1100del p.(Thr367fs) Hetero N/A r.? -
+?/+? 11 c.1169A>C p.(Tyr390Ser) Hetero no r.? -
+/+? 12 c.1283C>T p.(Ser428Phe) Hetero N/A r.? -
?/+? 12 c.1427C>T p.(Thr476Met) Hetero no r.? -
?/? 14 c.1510G>C p.(Glu504Gln) Hetero no r.(1510g>c) -
?/? 15 c.1556G>T p.(Arg519Leu) Hetero no r.(1556g>u) -
?/? 15 c.1586G>A p.(Gly529Asp) Hetero no r.? -
Legend   How to query