Variant #0000650758 (NC_000020.10:g.30407387G>A, MYLK2(NM_033118.3):c.4G>A)

Individual ID 00292901
Chromosome 20
Allele Parent #1
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.30407387G>A
DNA change (hg38) g.31819584G>A
Published as -
ISCN -
DB-ID MYLK2_000004 See all 3 reported entries
Variant remarks conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs117502839
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00084 View details
Owner Mohammed Faruq
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.4G>A r.(?) p.(Ala2Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294069 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq