Variant #0000169983 (NC_000001.10:g.26126722A>G, NM_020451.2:c.1A>G (SEPN1))

Individual ID 00104376
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.26126722A>G
DNA change (hg38) g.25800231A>G
Published as Met1Val
ISCN -
DB-ID SEPN1_000002 See all 21 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs121908184
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Wolfram Kress
Database submission license No license selected
Created by Wolfram Kress
Date created 2010-06-16 16:28:59 +02:00 (CEST)
Date last edited 2012-11-02 20:43:03 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEPN1 NM_020451.2 +/. 1 c.1A>G r.(?) p.(0?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104847 DNA SEQ - - SEPN1 2 Wolfram Kress


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