Variant #0000624137 (NC_000020.10:g.30409462del, MYLK2(NM_033118.3):c.694del)

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.30409462del
DNA change (hg38) g.31821659del
Published as MYLK2(NM_033118.3):c.694delG (p.A232Lfs*43)
ISCN -
DB-ID MYLK2_000052
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYLK2 NM_033118.3 ?/. - c.694del r.(?) p.(Ala232LeufsTer43)