All variants in the AATK gene

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

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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.*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
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