Variant #0000555322 (NC_000015.9:g.72638659A>G, HEXA(NM_000520.4):c.1338T>C)

Chromosome 15
Allele Unknown
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.72638659A>G
DNA change (hg38) g.72346318A>G
Published as HEXA(NM_000520.6):c.1338T>C (p.P446=), HEXA(NM_001318825.1):c.1371T>C (p.P457=)
ISCN -
DB-ID HEXA_000029 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00026 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HEXA NM_000520.4 -?/. - c.1338T>C r.(?) p.(Pro446=)