Variant #0000555325 (NC_000015.9:g.72642918C>T, HEXA(NM_000520.4):c.746G>A)

Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.72642918C>T
DNA change (hg38) g.72350577C>T
Published as HEXA(NM_001318825.1):c.779G>A (p.R260Q)
ISCN -
DB-ID HEXA_000032
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 ?/. - c.746G>A r.(?) p.(Arg249Gln)