Genomic variant #0000254773

Chromosome X
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.147743741A>G
DNA change (hg38) -
Published as AFF2(NM_002025.3):c.493A>G (p.N165D)
ISCN -
DB-ID AFF2_000065
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) 9.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AFF2 NM_002025.3 -?/. - c.493A>G likely benign r.(?) p.(Asn165Asp)