Variant #0000236166 (NC_000006.11:g.65301358C>G, NM_001142800.1:c.4402G>C (EYS))

Individual ID 00144278
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.65301358C>G
DNA change (hg38) g.64591465C>G
Published as p.(Asp1468His)
ISCN -
DB-ID EYS_000199 See all 5 reported entries
Variant remarks -
Reference PubMed: Ge 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency ExAC: 6, 19768, 0, 0.0003035
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Rob W.J. Collin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-28 22:45:32 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYS NM_001142800.1 ?/? 26 c.4402G>C r.(?) p.(Asp1468His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145137 DNA SEQ-NG-I - - EYS 2 Rob W.J. Collin


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.