Genomic variant #0000603937

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247969A>T
DNA change (hg38) g.5226739A>T
Published as CD 50 ACT>ACA [Thr>Thr]
ISCN -
DB-ID HBB_004064
Variant remarks -
Reference IthaNet-2049
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.153T>A - benign r.(?) p.(=)