All variants in the KCNT1 gene

Information The variants shown are described using the NM_020822.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.1156C>T r.(?) p.(Leu386Phe) - VUS g.138656997C>T g.135765151C>T - - KCNT1_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
?/. - c.1156C>T r.(?) p.(Leu386Phe) - VUS g.138656997C>T g.135765151C>T KCNT1(NM_020822.2):c.1156C>T (p.L386F) - KCNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1156C>T r.(?) p.(Leu386Phe) - likely benign g.138656997C>T g.135765151C>T KCNT1(NM_020822.2):c.1156C>T (p.L386F) - KCNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query