Genomic variant #0000442830

Individual ID 00210269
Chromosome 3
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46901019C>T
DNA change (hg38) -
Published as G>A (Glu143Lys)
ISCN -
DB-ID MYL3_000009 See all 5 reported entries
Variant remarks not in 380 control chromosomes
Reference PubMed: Caleshu 2011, OMIM:var0003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYL3 NM_000258.2 +/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211345 DNA SEQ - - MYL3 2 Johan den Dunnen