Variant #0000602415 (NC_000011.9:g.5246963G>C, HBB(NM_000518.4):c.316-7C>G)

Individual ID 00268594
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5246963G>C
DNA change (hg38) g.5225733G>C
Published as IVS-II-844 (C->G); beta+
ISCN -
DB-ID HBB_001211 See all 2 reported entries
Variant remarks -
Reference data from Globin Gene Server (HbVar-898), PubMed: Rosatelli, PubMed: Murru
ClinVar ID -
dbSNP ID rs34483965
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner HbVar - Belinda Giardine and Ross Hardison
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +?/. 2i c.316-7C>G - r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000269723 DNA ? - - HBB 1 HbVar - Belinda Giardine and Ross Hardison