Variant #0000786887 (NC_000015.9:g.72637869C>T, HEXA(NM_000520.4):c.1444G>A)

Individual ID 00374342
Chromosome 15
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72637869C>T
DNA change (hg38) g.72345528C>T
Published as -
ISCN -
DB-ID HEXA_000047
Variant remarks -
Reference PubMed: Ganapathy 2019
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 +?/. 13 c.1444G>A r.(?) p.(Glu482Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375536 DNA SEQ-NG - TruSight One panel HEXA 1 Johan den Dunnen