Full data view for gene ATG10

Information The variants shown are described using the NM_001131028.1 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.650G>A - r.(?) p.(Arg217Gln) Both (homozygous) g.81549231G>A g.82253412G>A - - ATG10_000001 - PubMed: Bee 2015, Journal: Bee 2015 - - Germline - - - 0 - DNA SEQ - WES ? 25872942-Fam PubMed: Bee 2015, Journal: Bee 2015 2-generation family, affected twin brothers, unaffected heterozygous carrier parents/sister M yes Italy - - 0 - - 2 Johan den Dunnen
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