Genomic variant #0000379122

Individual ID 00168112
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148038084C>T
DNA change (hg38) g.148956554C>T
Published as -
ISCN -
DB-ID AFF2_000087
Variant remarks -
Reference PubMed: Du 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Fei Li




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AFF2 NM_002025.3 ./. - c.2509C>T - r.(2509c>u) p.(Arg837Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000168984 DNA SEQ-NG - - AFF2 1 Fei Li