Variant #0000797182 (NC_000001.10:g.68912528C>G, RPE65(NM_000329.2):c.110G>C)

Individual ID 00381943
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.68912528C>G
DNA change (hg38) g.68446845C>G
Published as allele 1: c.110G>C/p.W37S, allele 2: c.722A>G/p.H241R
ISCN -
DB-ID RPE65_000298
Variant remarks heterozygous
Reference PubMed: Weisschuh 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 ?/. - c.110G>C r.(?) p.(Trp37Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383159 DNA SEQ-NG-I;SEQ blood targeted resequencing using MIPs library prep; 108-gene panel - 2 LOVD