Variant #0000569307 (NC_000020.10:g.30411341T>A, MYLK2(NM_033118.3):c.834T>A)

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.30411341T>A
DNA change (hg38) g.31823538T>A
Published as MYLK2(NM_033118.3):c.834T>A (p.N278K)
ISCN -
DB-ID MYLK2_000017 See all 2 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) 0.00027 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYLK2 NM_033118.3 ?/. - c.834T>A r.(?) p.(Asn278Lys)