Variant #0000874712 (NC_000015.9:g.31862287G>A, NM_001382637.1:c.265C>T (OTUD7A))

Individual ID 00415293
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.31862287G>A
DNA change (hg38) g.31570084G>A
Published as -
ISCN -
DB-ID OTUD7A_000003
Variant remarks -
Reference PubMed: Kozlova 2022, Journal: Kozlova 2022
ClinVar ID -
dbSNP ID rs757148409
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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 2022-08-11 09:32:04 +02:00 (CEST)
Date last edited 2022-08-11 09:36:10 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OTUD7A NM_001382637.1 +/. - c.265C>T r.(?) p.(Arg89Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416573 DNA SEQ - - OTUD7A 1 Johan den Dunnen


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