Variant #0000441090 (NC_000002.11:g.230666971dup, NM_001284214.1:c.3123dup (TRIP12))

Individual ID 00208906
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.230666971dup
DNA change (hg38) g.229802255dup
Published as NM_004238.2:c.2979dupA
ISCN -
DB-ID TRIP12_000028
Variant remarks -
Reference PubMed: Zhang 2017
ClinVar ID -
dbSNP ID -
Origin De novo
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 2018-12-19 22:50:25 +01:00 (CET)
Date last edited 2020-06-11 18:21:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRIP12 NM_001284214.1 +/. - c.3123dup r.(3123dup) p.(Gly1042Argfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209961 DNA SEQ;SEQ-NG peripheral blood lymphocytes WES TRIP12 1 Johan den Dunnen


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