Genomic variant #0000262049

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148044334G>A
DNA change (hg38) -
Published as AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H)
ISCN -
DB-ID AFF2_000080 See all 4 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) 0.00057 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AFF2 NM_002025.3 -/. - c.2780G>A benign r.(?) p.(Arg927His)