Genomic variant #0000603582

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247991T>G
DNA change (hg38) g.5226761T>G
Published as CD 43 GAG>GCG
ISCN -
DB-ID HBB_000769 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-953
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.131A>C Hb G-Galveston VUS r.(?) p.(Glu44Ala)