Variant #0000603690 (NC_000011.9:g.5247879G>Y, HBB(NM_000518.4):c.243C>R)

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.5247879G>Y
DNA change (hg38) g.5226649G>Y
Published as CD 80 AAC>AAA or AAG (Hb Gifu)
ISCN -
DB-ID HBB_000853 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-1068
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner IthaNet - Petros Kountouris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.243C>R Hb G-Szuhu r.(?) p.(Asn81Lys)