Full data view for gene ATXN3L

Information The variants shown are described using the NM_001135995.1 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.76G>T r.(?) p.(Glu26*) Parent #1 - VUS g.13337978C>A g.13319859C>A - - ATXN3L_000012 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.263G>A r.(?) p.(Gly88Asp) Unknown - VUS g.13337791C>T g.13319672C>T ATXN3L(NM_001135995.1):c.263G>A (p.G88D) - ATXN3L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.294_311del r.(?) p.(Glu98_Ile104delinsAsp) Unknown - VUS g.13337743_13337760del g.13319624_13319641del ATXN3L(NM_001135995.1):c.294_311del (p.(Glu98_Ile104delinsAsp)) - ATXN3L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.314A>G r.(?) p.(Asp105Gly) Unknown - VUS g.13337740T>C g.13319621T>C ATXN3L(NM_001135995.1):c.314A>G (p.(Asp105Gly)) - ATXN3L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.440G>A r.(?) p.(Cys147Tyr) Unknown - likely benign g.13337614C>T g.13319495C>T ATXN3L(NM_001135995.1):c.440G>A (p.C147Y) - ATXN3L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.557T>C r.(?) p.(Met186Thr) Unknown - likely benign g.13337497A>G g.13319378A>G ATXN3L(NM_001135995.1):c.557T>C (p.M186T) - ATXN3L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752T>C r.(?) p.(Ile251Thr) Unknown - VUS g.13337302A>G g.13319183A>G ATXN3L(NM_001135995.1):c.752T>C (p.I251T) - ATXN3L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>T r.(?) p.(Glu252Ter) Unknown - VUS g.13337300C>A g.13319181C>A ATXN3L(NM_001135995.1):c.754G>T (p.E252*) - ATXN3L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.763A>G r.(?) p.(Met255Val) Unknown - likely benign g.13337291T>C g.13319172T>C ATXN3L(NM_001135995.1):c.763A>G (p.(Met255Val)) - ATXN3L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.765G>C r.(?) p.(Met255Ile) Parent #1 - VUS g.13337289C>G g.13319170C>G - - ATXN3L_000011 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.939G>A r.(=) p.(=) Parent #1 - likely benign g.13337115C>T g.13318996C>T R313R - ATXN3L_000010 recurrent, found 22 times PubMed: Tarpey 2009 - - Germline - 22/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 22 Lucy Raymond
?/. - c.995G>A r.(?) p.(Gly332Asp) Parent #1 - VUS g.13337059C>T g.13318940C>T - - ATXN3L_000009 recurrent, found 60 times PubMed: Tarpey 2009 - - Germline - 60/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 60 Lucy Raymond
?/. - c.1003C>T r.(?) p.(Gln335Ter) Unknown - VUS g.13337051G>A g.13318932G>A ATXN3L(NM_001135995.1):c.1003C>T (p.Q335*) - ATXN3L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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