Variant #0000604172 (NC_000011.9:g.5247228C>R, HBB(NM_000518.4):c.316-272G>Y)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247228C>R
DNA change (hg38) g.5225998C>R
Published as IVS II-579 G>T/G>C
ISCN -
DB-ID HBB_004121
Variant remarks -
Reference IthaNet-3446
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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 -/- - c.316-272G>Y - r.spl? p.?