Variant #0000542540 (NC_000011.9:g.118047066_118047067insAG, SCN2B(NM_004588.4):c.70+11_70+12insTC)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.118047066_118047067insAG
DNA change (hg38) g.118176351_118176352insAG
Published as SCN2B(NM_004588.5):c.70+11_70+12insTC
ISCN -
DB-ID SCN2B_000008 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN2B NM_004588.4 -/. - c.70+11_70+12insTC r.(=) p.(=)