Genomic variant #0000248811

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.147800748A>G
DNA change (hg38) -
Published as AFF2(NM_001170628.1):c.44A>G (p.K15R)
ISCN -
DB-ID AFF2_000068
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AFF2 NM_002025.3 -/. - c.1041+56459A>G benign r.(=) p.(=)