Variant #0000218386 (NC_000020.10:g.30419931C>T, MYLK2(NM_033118.3):c.1702C>T)

Individual ID 00128404
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.30419931C>T
DNA change (hg38) g.31832128C>T
Published as -
ISCN -
DB-ID MYLK2_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Sahlin 2019, Journal: Sahlin 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00015 View details
Owner Ellika Sahlin
Database submission license No license selected
Created by Ellika Sahlin
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYLK2 NM_033118.3 ?/. - c.1702C>T r.(?) p.(Arg568Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000129242 DNA SEQ-NG - HaloPlex gene panel (70 heart genes) - 3 Ellika Sahlin