Genomic variant #0000574024

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.148037822C>G
DNA change (hg38) g.148956292C>G
Published as AFF2(NM_002025.3):c.2247C>G (p.I749M)
ISCN -
DB-ID AFF2_000097
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AFF2 NM_002025.3 -?/. - c.2247C>G r.(?) p.(Ile749Met)