All variants in the SLC6A8 gene

Information The variants shown are described using the NM_005629.3 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.644+2_644+3del r.spl? p.? - pathogenic g.152957010_152957011del g.153691555_153691556del SLC6A8 splice donor - SLC6A8_003227 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
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