Variant #0000872764 (NC_000003.11:g.3189785del, NM_182916.2:c.1252del (TRNT1))

Individual ID 00413750
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.3189785del
DNA change (hg38) -
Published as c.1246delA
ISCN -
DB-ID TRNT1_000019 See all 4 reported entries
Variant remarks -
Reference PubMed: DeLuca-2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-07-22 03:34:11 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRNT1 NM_182916.2 +?/. 8 c.1252del r.(?) p.(Ser418Valfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415030 DNA;RNA SEQ-NG;SEQ;RT-PCR;Western;SSCA dermal fibroblasts WES TRNT1 2 LOVD


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