Variant #0000281287 (NC_000015.9:g.72645446C>T, HEXA(NM_000520.4):c.533G>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.72645446C>T
DNA change (hg38) g.72353105C>T
Published as HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H)
ISCN -
DB-ID HEXA_000003 See all 4 reported entries
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) 5.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 +/. - c.533G>A r.(?) p.(Arg178His)