Genomic variant #0000442837

Individual ID 00210276
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46901026G>A
DNA change (hg38) -
Published as Phe140Phe
ISCN -
DB-ID MYL3_000017
Variant remarks present in controls
Reference PubMed: Kabaeva 2002
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.420C>T benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211352 DNA PCR;SEQ;SSCA - - MYL3 1 Johan den Dunnen