Variant #0000090877 (NC_000010.10:g.126097423T>C, NM_000274.3:c.311A>G (OAT))

Individual ID 00060097
Chromosome 10
Allele Parent #2
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.126097423T>C
DNA change (hg38) g.124408854T>C
Published as -
ISCN -
DB-ID OAT_000004 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Eva Trevisson
Database submission license No license selected
Created by Eva Trevisson
Date created 2012-09-12 17:28:08 +02:00 (CEST)
Date last edited 2012-09-19 13:05:37 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OAT NM_000274.3 +/. 3 c.311A>G r.311a>g p.Gln104Arg



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060084 DNA;RNA RT-PCR;SEQ - - OAT 2 Eva Trevisson


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