Variant #0000089913 (NC_000006.11:g.133804173G>A, NM_004100.4:c.1111G>A (EYA4))

Individual ID 00059143
Chromosome 6
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.133804173G>A
DNA change (hg38) g.133483035G>A
Published as -
ISCN -
DB-ID EYA4_000005
Variant remarks -
Reference PubMed: Sommen 2016, Journal: Sommen 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Manou Sommen
Database submission license No license selected
Created by Manou Sommen
Date created 2016-02-29 10:01:37 +01:00 (CET)
Date last edited 2016-04-30 15:29:24 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA4 NM_004100.4 ?/. - c.1111G>A r.(?) p.(Val371Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059116 DNA SEQ;SEQ-NG-I - - EYA4 1 Manou Sommen


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