Genomic variant #0000328343

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31024812del
DNA change (hg38) -
Published as ASXL1(NM_015338.5):c.4295del (p.(Gln1433AsnfsTer17))
ISCN -
DB-ID ASXL1_000052
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ASXL1 NM_015338.5 ?/. - c.4297del VUS r.(?) p.(Gln1433Asnfs*17)