Genomic variant #0000000561

Individual ID 00000069
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72645446C>T
DNA change (hg38) g.72353105C>T
Published as -
ISCN -
DB-ID HEXA_000003 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000069 DNA SEQ-NG - - AHI1, ARSB, ATP7B, CYP27A1, ETFB, GLB1, HEXA, HEXB, LAMA2, MTHFR, MYO5A, NHLRC1, NPHS1, PMM2, SBDS 17 LOVD-team, but with Curator vacancy