Genomic variant #0000263125

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31023041T>C
DNA change (hg38) -
Published as ASXL1(NM_015338.5):c.2526T>C (p.N842=)
ISCN -
DB-ID ASXL1_000029
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) 0.00015 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ASXL1 NM_015338.5 -?/. - c.2526T>C likely benign r.(?) p.(=)