Genomic variant #0000603591

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247980C>A
DNA change (hg38) g.5226750C>A
Published as CD 47 GAT>TAT
ISCN -
DB-ID HBB_000779 See all 3 reported entries
Variant remarks β-chain variant
Reference IthaNet-962
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner IthaNet - Petros Kountouris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.142G>T Hb Maputo r.(?) p.(Asp48Tyr)