Variant #0000604067 (NC_000011.9:g.5248526G>A, HBB(NM_000518.4):c.-275C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification association
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248526G>A
DNA change (hg38) g.5227296G>A
Published as -
ISCN -
DB-ID HBB_004017
Variant remarks modifier HbF levels
Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference IthaNet-2869
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IthaNet - Petros Kountouris
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.-275C>T - r.(=) p.(=)