Genomic variant #0000604091

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248243A>G
DNA change (hg38) g.5227013A>G
Published as CD 2 CAT>CAC [His>His]
ISCN -
DB-ID HBB_001942 See all 3211 reported entries
Variant remarks -
Reference IthaNet-3007
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.84867 View details
Owner IthaNet - Petros Kountouris
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 -/- - c.9T>C - r.(?) p.(=)