Variant #0000476846 (NC_000008.10:g.43002177G>A, HGSNAT(NM_152419.2):c.205G>A)

Individual ID 00233039
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.43002177G>A
DNA change (hg38) g.43147034G>A
Published as -
ISCN -
DB-ID HGSNAT_000093
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID rs202001245
Origin Germline
Segregation -
Frequency 1/1204 cases with retinitis pigmentosa
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0005 View details
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 ?/. - c.205G>A r.(?) p.(Val69Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000234138 DNA SEQ-NG - - HGSNAT 1 Yoshito Koyanagi