Variant #0000357968 (NC_000018.9:g.3452223dup, NM_170695.2:c.246dup (TGIF1))

Individual ID 00155227
Chromosome 18
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.3452223dup
DNA change (hg38) g.3452225dup
Published as -
ISCN -
DB-ID TGIF1_000006
Variant remarks -
Reference PubMed: Saeed 2018
ClinVar ID -
dbSNP ID -
Origin Germline
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 2018-03-18 14:33:30 +01:00 (CET)
Date last edited 2018-10-01 03:10:53 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Type/DNA     
TGIF1 NM_170695.2 ?/. - c.246dup r.(?) p.(Pro83Serfs*61) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156091 DNA SEQ;SEQ-NG - WES - 9 Johan den Dunnen


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