Genomic variant #0000604100

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247283del
DNA change (hg38) g.5226053del
Published as CD 111-115 (-12bp): (-TCTGTGTGCTGG), 335-346del12bp
ISCN -
DB-ID HBB_004126
Variant remarks β-thalassaemia
Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference IthaNet-3024
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.335-346del - r.spl? p.?