Variant #0000603943 (NC_000011.9:g.5247547T>C, HBB(NM_000518.4):c.315+260A>G)

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.5247547T>C
DNA change (hg38) g.5226317T>C
Published as IVS II-260 A>G
ISCN -
DB-ID HBB_003042 See all 13 reported entries
Variant remarks -
Reference IthaNet-2055
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.315+260A>G - r.(?) p.(=)