Genomic variant #0000223247

Individual ID 00132985
Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46271428G>T
DNA change (hg38) g.45768170G>T
Published as -
ISCN -
DB-ID SIX5_000001
Variant remarks -
Reference PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017
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     
SIX5 NM_175875.4 +/. - c.675C>A - r.(?) p.(Tyr225*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133819 DNA SEQ - WES SIX5 1 Johan den Dunnen