Variant #0000675132 (NC_000004.11:g.5743512T>C, NM_153717.2:c.772T>C (EVC))

Individual ID 00307099
Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5743512T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID EVC_000007 See all 3 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) 0.79674 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-31 10:33:21 +02:00 (CEST)
Date last edited 2020-07-31 10:34:22 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EVC NM_153717.2 -/. - c.772T>C r.(?) p.(Tyr258His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308241 DNA SEQ - - EVC 1 Johan den Dunnen


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