Variant #0000100982 (NC_000011.9:g.5247791C>G, HBB(NM_000518.4):c.315+16G>C)

Individual ID 00066237
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247791C>G
DNA change (hg38) g.5226561C>G
Published as -
ISCN -
DB-ID HBB_001945 See all 2746 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.76523 View details
Owner Kees Harteveld
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-03-25 12:31:54 +01:00 (CET)
Date last edited 2019-11-04 20:22:20 +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 -/. 2i c.315+16G>C - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000066391 DNA SEQ - - HBB 5 Kees Harteveld