Variant #0000285101 (NC_000015.9:g.72637817C>T, HEXA(NM_000520.4):c.1496G>A)

Chromosome 15
Allele Unknown
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.72637817C>T
DNA change (hg38) g.72345476C>T
Published as HEXA(NM_000520.6):c.1496G>A (p.R499H)
ISCN -
DB-ID HEXA_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 +/. - c.1496G>A r.(?) p.(Arg499His)