All variants in the AATK gene

Information The variants shown are described using the NM_004920.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.1065C>T r.(?) p.(Phe355=) - likely benign g.79096362G>A - AATK(NM_001080395.2):c.1374C>T (p.F458=) - AATK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1151C>A r.(?) p.(Ala384Glu) - VUS g.79096276G>T g.81122476G>T AATK(NM_001080395.2):c.1460C>A (p.A487E) - AATK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1221C>T r.(?) p.(Gly407=) - likely benign g.79096206G>A g.81122406G>A AATK(NM_001080395.2):c.1530C>T (p.G510=) - AATK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3537G>A r.(?) p.(Gln1179=) - likely benign g.79093773C>T - AATK(NM_001080395.2):c.3846G>A (p.Q1282=) - AATK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*60426_*60428del r.(=) p.(=) - likely benign g.79031787_79031789del g.81057987_81057989del BAIAP2(NM_001144888.1):c.217+7_217+9del (p.(=)) - AATK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*60427_*60428del r.(=) p.(=) - likely benign g.79031788_79031789del g.81057988_81057989del BAIAP2(NM_001144888.1):c.217+7_217+8del (p.(=)) - AATK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*60428del r.(?) p.(=) - likely benign g.79031789del g.81057989del BAIAP2(NM_001144888.1):c.217+7delC (p.(=)) - AATK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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