Variant #0000277650 (NC_000008.10:g.43027474C>T, HGSNAT(NM_152419.2):c.765C>T)

Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.43027474C>T
DNA change (hg38) g.43172331C>T
Published as HGSNAT(NM_152419.2):c.765C>T (p.V255=)
ISCN -
DB-ID HGSNAT_000063
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) 0.00015 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 -/. - c.765C>T r.(?) p.(Val255=)