Variant #0000289055 (NC_000008.10:g.43024334delinsCCC, HGSNAT(NM_152419.2):c.582delinsCCC)

Chromosome 8
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.43024334delinsCCC
DNA change (hg38) g.43169191delinsCCC
Published as HGSNAT(NM_152419.2):c.582delTinsCCC (p.W195Pfs*7)
ISCN -
DB-ID HGSNAT_000061
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +/. - c.582delinsCCC r.(?) p.(Trp195ProfsTer7)