Variant #0000683315 (NC_000015.9:g.72647903G>A, HEXA(NM_000520.4):c.409C>T)

Individual ID 00307741
Chromosome 15
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.72647903G>A
DNA change (hg38) g.72355562G>A
Published as -
ISCN -
DB-ID HEXA_000022 See all 2 reported entries
Variant remarks -
Reference PubMed: Grozeva 2015, Journal: Grozeva 2015
ClinVar ID -
dbSNP ID rs121907962
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
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.409C>T r.(?) p.(Arg137*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308881 DNA SEQ;SEQ-NG - 565 gene panel HEXA 2 Johan den Dunnen