Variant #0000784041 (NC_000015.9:g.72668159G>T, HEXA(NM_000520.4):c.155C>A)

Individual ID 00372554
Chromosome 15
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.72668159G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID HEXA_000046
Variant remarks -
Reference Journal: Voisin 2021, Journal: Voisin 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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     
HEXA NM_000520.4 +/. - c.155C>A r.(?) p.(Ser52*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373787 DNA arraySNP;SEQ-NG - - AFF3 2 Johan den Dunnen