Transcript #00000139 (NM_000051.4, ATM gene)

Transcript name transcript variant 2
Gene name ATM (ATM serine/threonine kinase)
Chromosome 11
Transcript - NCBI ID NM_000051.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000042.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
?/? 3 c.79G>A p.(Val27Ile) Hetero no r.(79g>a) -
+?/+? 6 c.540dup p.(Asp181Argfs*4) Hetero PALB2 r.? -
?/? 7 c.663-8C>A p.(=) Hetero no r.(=) -
?/-? 8 c.998C>T p.(Ser333Phe) Hetero no r.(998c>u) -
?/? 8 c.1009C>T p.Arg337Cys Hetero no r.(1009c>u) -
?/? 9 c.1229T>C p.Val410Ala Hetero no r.(1229u>c) -
?/? 9 c.1229T>C p.Val410Ala Hetero no r.(1229u>c) -
+/+ 10 c.1339C>T p.(Arg447Ter) Hetero N/A r.(1339c>u) -
+/+ 10 c.1339C>T p.(Arg447*) Hetero N/A r.(1339c>u) -
?/? 14 c.2159G>A p.(Arg720His) Hetero no r.(2159g>a) -
?/? 14 c.2218G>A (p.Ala740Thr) Hetero no r.(2218g>a) -
?/? 17 c.2476A>C p.Ile826Leu Hetero no r.(2476a>c) -
?/? 17i c.2638+6T>C p.? Hetero no r.spl? -
?/? 18 c.2786T>C p.(Met929Thr) Hetero no r.(2786u>c) -
+/+ 19i c.2921+1G>T p.? Hetero N/A r.? -
?/? 20 c.2994C>T p.(Arg982Cys) Hetero no r.(2944c>u) -
+?/+? 28i c.4236+1G>A p.? Hetero no r.? -
+/+ 31 c.4632C>G (p.Tyr1544*) Hetero N/A r.(4632c>g) -
?/? 31 c.4703A>G (p.His1568Arg) Hetero no r.(4703a>g) -
?/? 31 c.4709T>C p.(Val1570Ala) Hetero no r.? -
?/? 31 c.4724G>A p.(Arg1575His) Hetero no r.(4724g>a) -
+/+ 32 c.4852C>T (p.Arg1618*) Hetero N/A r.(4852c>u) -
?/? 35 c.5185G>C (p.Val1729Leu) Hetero no r.(5185g>c) -
+/+ 35 c.5188C>T p.(Arg1730*) Hetero N/A r.(5188c>u) -
?/? 35 c.5189G>A p.(Arg1730Gln) Hetero no r.(5189g>a) -
?/? 37 c.5584C>T p.(Leu1862Phe) Hetero RAD51C r.(5584c>u) -
?/? 38 c.5761A>G (p.Arg1921Gly) Hetero no r.(5761a>g) -
?/? 41 c.6067G>A p.(Gly2023Arg) Hetero no r.(6067g>a) -
?/? 43 c.6315G>C p.(Arg2105Ser) Hetero no r.? -
?/? 47 c.6820G>A p.(Ala2274Thr) Hetero no r.(6820g>a) -
?/? 47 c.6860G>C p.(Gly2287Ala) Hetero no r.(6860g>c) -
?/? 50 c.7475T>G p.(Leu2492Arg) Hetero no r.(7475u>g) -
?/? 51 c.7552C>T p.(Pro2518Ser) Hetero no r.(7552c>u) -
?/? 54 c.7960A>G p.(Thr2654Ala) Hetero no r.(7960a>g) -
?/? 56 c.8312C>T (p.Thr2771Ile) Hetero no r.(8312c>u) -
?/? 59 c.8670A>G p.Leu2890= Hetero no r.(8670a>g) -
+?/+ 63 c.9023G>A p.(Arg3008His) Hetero no r.(?) -
?/? 63 c.9160G>C p.(Ala3054Pro) Hetero no r.(9160g>c) -
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