Variant #0000116942 (NC_000015.9:g.72641494_72641496del, HEXA(NM_000520.4):c.915_917del)

Individual ID 00073149
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.72641494_72641496del
DNA change (hg38) g.72349153_72349155del
Published as 915_917delCTT
ISCN -
DB-ID HEXA_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Claire Guissart
Database submission license No license selected
Created by Claire Guissart
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 +/. 8 c.915_917del r.(?) p.(Phe305del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073309 DNA SEQ;SEQ-NG-I - - HEXA, NDUFA1 2 Claire Guissart