Variant #0000299805 (NC_000020.10:g.30409452T>C, MYLK2(NM_033118.3):c.684T>C)

Chromosome 20
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.30409452T>C
DNA change (hg38) g.31821649T>C
Published as MYLK2(NM_033118.3):c.684T>C (p.I228=)
ISCN -
DB-ID MYLK2_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.06502 View details
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     
MYLK2 NM_033118.3 -/. - c.684T>C r.(?) p.(Ile228=)