Variant #0000188223 (NC_000009.11:g.138642784G>A, KCNT1(NM_020822.2):c.335-4G>A)

Individual ID 00116910
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.138642784G>A
DNA change (hg38) g.135750938G>A
Published as -
ISCN -
DB-ID KCNT1_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs372339395
Origin Germline
Segregation -
Frequency 2/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Dheeraj Bobbili
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNT1 NM_020822.2 ./. - c.335-4G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117378 DNA SEQ-NG - - - 2 Dheeraj Bobbili