Variant #0000082846 (NC_000011.9:g.123525272C>T, SCN2B(NM_004588.4):c.-763G>A)

Individual ID 00053020
Chromosome 11
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.123525272C>T
DNA change (hg38) g.123654564C>T
Published as -
ISCN -
DB-ID SCN2B_000005 See all 22 reported entries
Variant remarks -
Reference PubMed: Peeters 2015
ClinVar ID -
dbSNP ID rs12420563
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Uschi Peeters
Database submission license No license selected
Created by Uschi Peeters
Date created 2015-10-29 15:56:01 +01:00 (CET)
Date last edited 2019-07-19 10:43:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN2B NM_004588.4 ?/. 1 c.-763G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052968 DNA SEQ blood - SCN1B, SCN2B, SCN3B, SCN4B 9 Uschi Peeters