Variant #0000675126 (NC_000004.11:g.5747033_5747035del, EVC(NM_153717.2):c.904_906del)

Individual ID 00307093
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.5747033_5747035del
DNA change (hg38) -
Published as 904_906delAAG
ISCN -
DB-ID EVC_000076 See all 7 reported entries
Variant remarks -
Reference PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EVC NM_153717.2 +/. - c.904_906del r.(?) p.(Lys302del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308235 DNA SEQ - - EVC 1 Johan den Dunnen