Variant #0000603805 (NC_000011.9:g.5246926G>A, HBB(NM_000518.4):c.346C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5246926G>A
DNA change (hg38) g.5225696G>A
Published as CD 115 GCC>GTC [Ala>Val]
ISCN -
DB-ID HBB_004130
Variant remarks β-chain variant, Haemolytic anaemia
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference IthaNet-1193
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 No license selected
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.346C>T Hb Roma r.(?) p.(Ala116Val)