Genomic variant #0000603753

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247826A>T
DNA change (hg38) g.5226596A>T
Published as CD 98 GTG>GAG [Val>Glu]
ISCN -
DB-ID HBB_000902 See all 2 reported entries
Variant remarks β-chain variant, Haemolytic anaemia
Reference IthaNet-1133
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner IthaNet - Petros Kountouris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.296T>A Hb Mainz pathogenic r.(?) p.(Val99Glu)