Variant #0000669295 (NC_000015.9:g.72637878C>T, HEXA(NM_000520.4):c.1435G>A)

Individual ID 00304478
Chromosome 15
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.72637878C>T
DNA change (hg38) g.72345537C>T
Published as -
ISCN -
DB-ID HEXA_000039 See all 2 reported entries
Variant remarks 1 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs145012038
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00084 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 -?/. - c.1435G>A r.(?) p.(Ala479Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305607 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq