Variant #0000906137 (NC_000011.9:g.5248330T>C, HBB(NM_000518.4):-)

Individual ID 00427034
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248330T>C
DNA change (hg38) g.5227100T>C
Published as c.-79A>G
ISCN -
DB-ID HBB_001089 See all 78 reported entries
Variant remarks -
Reference PubMed: Reiner 2022
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/73755 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-12-04 12:45:35 +01:00 (CET)
Date last edited 2022-12-07 12:39:45 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. - - - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000428354 DNA SEQ;SEQ-NG - custom gene panel - 2 Johan den Dunnen