Variant #0000763142 (NC_000022.10:g.19398298T>C, HIRA(NM_003325.3):c.41A>G)

Individual ID 00361540
Chromosome 22
Allele Both (homozygous)
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.19398298T>C
DNA change (hg38) g.19410775T>C
Published as -
ISCN -
DB-ID HIRA_000008
Variant remarks -
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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)     

RNA change     

Protein     
HIRA NM_003325.3 +/. - c.41A>G r.(?) p.(Lys14Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362768 DNA SEQ-NG - WES HIRA 1 Johan den Dunnen