Full data view for gene MAGEE1

Information The variants shown are described using the NM_020932.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.40_42del r.(?) p.(Arg14del) Unknown - VUS g.75648363_75648365del g.76427970_76427972del MAGEE1(NM_020932.2):c.25_27del (p.(Arg9del)) - MAGEE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.106C>T r.(?) p.(Leu36Phe) Unknown - likely benign g.75648429C>T g.76428036C>T MAGEE1(NM_020932.2):c.106C>T (p.L36F) - MAGEE1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228A>C r.(=) p.(=) Parent #1 - likely benign g.75648551A>C g.76428158A>C P76P - MAGEE1_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.374G>A r.(?) p.(Cys125Tyr) Unknown - likely benign g.75648697G>A g.76428304G>A MAGEE1(NM_020932.2):c.374G>A (p.(Cys125Tyr)) - MAGEE1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479C>A r.(?) p.(Pro160Gln) Unknown - likely benign g.75648802C>A g.76428409C>A MAGEE1(NM_020932.2):c.479C>A (p.(Pro160Gln)) - MAGEE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.490C>G r.(?) p.(Leu164Val) Unknown - likely benign g.75648813C>G g.76428420C>G MAGEE1(NM_020932.2):c.490C>G (p.L164V) - MAGEE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.493C>G r.(?) p.(Pro165Ala) Unknown - benign g.75648816C>G g.76428423C>G MAGEE1(NM_020932.2):c.493C>G (p.P165A) - MAGEE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Pro165Leu) Unknown - likely benign g.75648817C>T g.76428424C>T MAGEE1(NM_020932.2):c.494C>T (p.P165L) - MAGEE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.499A>G r.(?) p.(Thr167Ala) Unknown - likely benign g.75648822A>G g.76428429A>G MAGEE1(NM_020932.2):c.499A>G (p.(Thr167Ala)) - MAGEE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.506G>A r.(?) p.(Gly169Asp) Unknown - benign g.75648829G>A g.76428436G>A MAGEE1(NM_020932.2):c.506G>A (p.G169D) - MAGEE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.514A>C r.(?) p.(Thr172Pro) Unknown - benign g.75648837A>C g.76428444A>C MAGEE1(NM_020932.2):c.514A>C (p.T172P) - MAGEE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.542A>C r.(?) p.(Tyr181Ser) Unknown - benign g.75648865A>C g.76428472A>C MAGEE1(NM_020932.2):c.542A>C (p.Y181S) - MAGEE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.548G>T r.(?) p.(Gly183Val) Unknown - likely benign g.75648871G>T g.76428478G>T MAGEE1(NM_020932.2):c.548G>T (p.G183V) - MAGEE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.737C>A r.(?) p.(Thr246Asn) Unknown - likely benign g.75649060C>A g.76428667C>A MAGEE1(NM_020932.2):c.737C>A (p.(Thr246Asn)) - MAGEE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.826G>A r.(?) p.(Ala276Thr) Unknown - likely benign g.75649149G>A g.76428756G>A MAGEE1(NM_020932.2):c.826G>A (p.A276T) - MAGEE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844A>G r.(?) p.(Ile282Val) Unknown - VUS g.75649167A>G g.76428774A>G MAGEE1(NM_020932.2):c.844A>G (p.I282V) - MAGEE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.884C>T r.(?) p.(Ser295Phe) Unknown - likely benign g.75649207C>T g.76428814C>T MAGEE1(NM_020932.2):c.884C>T (p.(Ser295Phe)) - MAGEE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907G>A r.(?) p.(Gly303Ser) Unknown - VUS g.75649230G>A g.76428837G>A MAGEE1(NM_020932.2):c.907G>A (p.G303S) - MAGEE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.913A>T r.(?) p.(Ser305Cys) Parent #1 - VUS g.75649236A>T g.76428843A>T - - MAGEE1_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.956C>T r.(?) p.(Ser319Phe) Unknown - likely benign g.75649279C>T - MAGEE1(NM_020932.2):c.956C>T (p.S319F) - MAGEE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.959T>C r.(?) p.(Val320Ala) Unknown - likely benign g.75649282T>C g.76428889T>C MAGEE1(NM_020932.2):c.959T>C (p.V320A) - MAGEE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.964C>G r.(?) p.(Pro322Ala) Unknown - VUS g.75649287C>G g.76428894C>G MAGEE1(NM_020932.2):c.964C>G (p.P322A) - MAGEE1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.980G>A r.(?) p.(Gly327Glu) Unknown - VUS g.75649303G>A g.76428910G>A MAGEE1(NM_020932.2):c.980G>A (p.(Gly327Glu)) - MAGEE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1017G>C r.(?) p.(Glu339Asp) Parent #1 - VUS g.75649340G>C g.76428947G>C - - MAGEE1_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1033C>T r.(?) p.(Pro345Ser) Unknown - likely benign g.75649356C>T g.76428963C>T MAGEE1(NM_020932.2):c.1033C>T (p.(Pro345Ser)) - MAGEE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1075A>G r.(?) p.(Ile359Val) Unknown - VUS g.75649398A>G g.76429005A>G MAGEE1(NM_020932.2):c.1075A>G (p.I359V) - MAGEE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1133C>T r.(?) p.(Thr378Ile) Unknown - likely benign g.75649456C>T g.76429063C>T MAGEE1(NM_020932.2):c.1133C>T (p.(Thr378Ile)) - MAGEE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1316C>A r.(?) p.(Thr439Asn) Unknown - likely benign g.75649639C>A g.76429246C>A MAGEE1(NM_020932.2):c.1316C>A (p.T439N) - MAGEE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1421T>C r.(?) p.(Met474Thr) Unknown - likely benign g.75649744T>C g.76429351T>C MAGEE1(NM_020932.2):c.1421T>C (p.(Met474Thr)) - MAGEE1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1460C>T r.(?) p.(Pro487Leu) Unknown - likely benign g.75649783C>T g.76429390C>T MAGEE1(NM_020932.2):c.1460C>T (p.(Pro487Leu)) - MAGEE1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1694G>A r.(?) p.(Gly565Glu) Unknown - VUS g.75650017G>A g.76429624G>A MAGEE1(NM_020932.2):c.1694G>A (p.G565E) - MAGEE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1890G>A r.(?) p.(Val630=) Unknown - likely benign g.75650213G>A g.76429820G>A MAGEE1(NM_020932.2):c.1890G>A (p.V630=) - MAGEE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2499T>C r.(=) p.(=) Parent #1 - likely benign g.75650822T>C g.76430429T>C P833P - MAGEE1_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
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