Variant #0000570274 (NC_000020.10:g.62075988_62075989insT, KCNQ2(NM_172107.2):c.690+23_690+24insA)

Chromosome 20
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.62075988_62075989insT
DNA change (hg38) g.63444635_63444636insT
Published as KCNQ2(NM_172107.4):c.690+23_690+24insA
ISCN -
DB-ID KCNQ2_000179
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 ?/. - c.690+23_690+24insA r.(=) p.(=)