Variant #0000701641 (NC_000020.10:g.30414640G>A, MYLK2(NM_033118.3):c.1123G>A)

Individual ID 00317853
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.30414640G>A
DNA change (hg38) g.31826837G>A
Published as -
ISCN -
DB-ID MYLK2_000026 See all 3 reported entries
Variant remarks VUS favour pathogenic
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/121 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYLK2 NM_033118.3 ?/. - c.1123G>A r.(?) p.(Asp375Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319035 DNA SEQ;SEQ-NG - cardiomyopathy gene panel MYLK2 1 Johan den Dunnen