Genomic variant #0000604041

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248204C>R
DNA change (hg38) g.5226974C>R
Published as CD 15 TGG>TGC or TGT [Trp>Cys]
ISCN -
DB-ID HBB_001807 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-2464
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner IthaNet - Petros Kountouris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.48G>Y Hb Garston VUS r.(?) p.Trp16Cys)