Variant #0000603530 (NC_000011.9:g.5248172T>A, HBB(NM_000518.4):c.80A>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.5248172T>A
DNA change (hg38) g.5226942T>A
Published as CD 26 GAG>GTG [Glu>Val]
ISCN -
DB-ID HBB_000730 See all 2 reported entries
Variant remarks β-chain variant, Haemolytic anaemia
Reference IthaNet-895
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     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.80A>T Hb Henri Mondor r.(?) p.(Glu27Val)