Variant #0000476850 (NC_000008.10:g.43027510C>G, HGSNAT(NM_152419.2):c.801C>G)

Individual ID 00233043
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.43027510C>G
DNA change (hg38) g.43172367C>G
Published as -
ISCN -
DB-ID HGSNAT_000097
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1204 cases with retinitis pigmentosa
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 ?/. - c.801C>G r.(?) p.(Phe267Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000234142 DNA SEQ-NG - - HGSNAT 1 Yoshito Koyanagi