Variant #0000603494 (NC_000011.9:g.5248202C>T, HBB(NM_000518.4):c.50G>A)

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.5248202C>T
DNA change (hg38) g.5226972C>T
Published as CD 16 GGC>GAC (Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven)
ISCN -
DB-ID HBB_000699 See all 60 reported entries
Variant remarks β-chain variant
Reference IthaNet-854
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.50G>A Hb J-Baltimore r.(?) p.(Gly17Asp)