Variant #0000000340 (NC_000011.10:g.5226937dupG, NM_000518.4:c.85dupC (HBB))

Individual ID 00000065
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226937dupG
Published as CD 27/28 (+C)
Reference Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0342), ClinVar
DB-ID HBB_000038 See all 3 reported entries
dbSNP ID rs35532010
Frequency 2/91
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-19 12:29:57 +08:00 (CST)
Date last edited 2021-08-19 14:40:31 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBB NM_000518.4 +/. 1 c.85dupC CD 27/28 (+C) r.(?) p.(Leu29Profs*16) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000078 DNA PCRm HBB 10 Nuur Athirah Binti Mohd Daud