Variant #0000710921 (NC_000004.11:g.(5721101_5731033)_(5758090_5785278)del, NC_000004.11(NM_153717.2):c.(300+1_301-1)_(1563+1_1564-1)del (EVC))

Individual ID 00326023
Chromosome 4
Allele Parent #1
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.(5721101_5731033)_(5758090_5785278)del
DNA change (hg38) g.(5719374_5729306)_(5756363_5783551)del
Published as 301-?_1563+?del, hg18 5782048_5804013del
ISCN -
DB-ID EVC_000097
Variant remarks -
Reference PubMed: D'Asdia 2013
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
Date created 2021-01-06 18:59:52 +01:00 (CET)
Date last edited 2021-01-06 19:11:51 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EVC NM_153717.2 +/. 2i_ c.(300+1_301-1)_(1563+1_1564-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000327233 DNA SEQ - - EVC, EVC2 2 Johan den Dunnen


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