Variant #0000170749 (NC_000016.9:g.223383_227186dup, NM_000517.4:c.272_*3504dup (HBA2))

Individual ID 00104767
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.223383_227186dup
DNA change (hg38) g.173384_177187dup
Published as ααα
ISCN -
DB-ID HBA1_000000 See all 3 reported entries
Variant remarks -
Reference PubMed: He 2017, Journal: He 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/951 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Baosheng Zhu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-05-24 09:01:29 +02:00 (CEST)
Date last edited 2020-07-07 11:15:35 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBA2 NM_000517.4 ./. - c.272_*3504dup - r.? p.?
HBA1 NM_000558.3 +/. _1_2 c.-3416_271dup - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105241 DNA SEQ-NG - - HBA1, HBA2, HBB 1 Baosheng Zhu


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.