Variant #0000831002 (NC_000015.9:g.72642859C>T, HEXA(NM_000520.4):c.805G>A)

Individual ID 00397528
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.72642859C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID HEXA_000004 See all 4 reported entries
Variant remarks ACMG: PS3, PS4, PM3, PM2_SUP, PP3
Reference PMID: 2522679, 2220809, 2522679, 20363167
ClinVar ID Variation ID: 3898
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 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.805G>A r.(?) p.(Gly269Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398768 DNA SEQ-NG-I - - HEXA, OPTN 3 Andreas Laner