Variant #0000691845 (NC_000015.9:g.72638921_72638924dup, HEXA(NM_000520.4):c.1274_1277dup)

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.72638921_72638924dup
DNA change (hg38) -
Published as HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5)
ISCN -
DB-ID HEXA_000002 See all 2 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 +/. - c.1274_1277dup r.(?) p.(Tyr427IlefsTer5)