Full data view for gene KCNT1

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.844G>A r.(?) p.(Val282Ile) Unknown - VUS g.138650344G>A g.135758498G>A - - KCNT1_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_183:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
?/. - c.844G>A r.(?) p.(Val282Ile) Unknown - VUS g.138650344G>A g.135758498G>A KCNT1(NM_020822.2):c.844G>A (p.V282I) - KCNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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