All variants in the SLC6A8 gene

Information The variants shown are described using the NM_005629.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 3 c.541T>C r.(?) p.(Cys181Arg) - pathogenic g.152956905T>C g.153691450T>C - - SLC6A8_003028 - - - - Germline - - - 0 - Andreas Laner
?/+? 3 c.541T>C r.(?) p.(Cys181Arg) - VUS g.152956905T>C g.153691450T>C - - SLC6A8_003028 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: van de Kamp 2013 - - De novo - myoblasts and muscle biopsy present - 0 - Gajja Salomons
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