Variant #0000218410 (NC_000020.10:g.30408319A>G, NM_033118.3:c.443A>G (MYLK2))

Individual ID 00128424
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.30408319A>G
DNA change (hg38) g.31820516A>G
Published as -
ISCN -
DB-ID MYLK2_000001
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 View details
Owner Ellika Sahlin
Database submission license No license selected
Created by Ellika Sahlin
Date created 2017-09-15 16:45:31 +02:00 (CEST)
Date last edited 2019-06-06 15:50:12 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYLK2 NM_033118.3 ?/. - c.443A>G r.(?) p.(His148Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000129262 DNA SEQ-NG - HaloPlex gene panel (70 heart genes) - 1 Ellika Sahlin


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