Genomic variant #0000339810

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31024034G>A
DNA change (hg38) -
Published as ASXL1(NM_015338.5):c.3519G>A (p.L1173=)
ISCN -
DB-ID ASXL1_000079 See all 2 reported entries
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) 0.00069 View details
Owner VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ASXL1 NM_015338.5 -/. - c.3519G>A benign r.(?) p.(=)