Variant #0000674703 (NC_000019.9:g.39964947del, SUPT5H(NM_003169.3):c.2725del)

Individual ID 00306753
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.39964947del
DNA change (hg38) g.39474307del
Published as -
ISCN -
DB-ID SUPT5H_000023
Variant remarks -
Reference PubMed: Achour 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kees Harteveld
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-17 16:11:41 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUPT5H NM_003169.3 +/. - c.2725del r.(?) p.(Gln909Argfs*45)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307888 DNA SEQ - - HBA2, HBB, SUPT5H 1 Kees Harteveld