Variant #0000624925 (NC_000015.9:g.72638893G>A, HEXA(NM_000520.4):c.1305C>T)

Individual ID 00269920
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72638893G>A
DNA change (hg38) g.72346552G>A
Published as -
ISCN -
DB-ID HEXA_000038
Variant remarks ACMG: PS3,PM2,PM3,PP4,PP5; phase unknown, sister also affected; Levit et al. 2010. Mol Genet Metab. 100: 176
Reference -
ClinVar ID -
dbSNP ID rs587779406
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 +/. - c.1305C>T r.(?) p.(Tyr435Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000271073 DNA SEQ-NG-S - - - 2 Andreas Laner