Variant #0000872745 (NC_000003.11:g.3188149A>G, NM_182916.2:c.644A>G (TRNT1))

Individual ID 00413741
Chromosome 3
Allele Both (homozygous)
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.3188149A>G
DNA change (hg38) -
Published as H215R/H215R
ISCN -
DB-ID TRNT1_000028 See all 2 reported entries
Variant remarks -
Reference PubMed: Giannelou-2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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 +/. 6 c.644A>G r.(?) p.(His215Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415021 DNA;RNA SEQ-NG;SEQ Peripheral blood mononuclear cells (PBMCs) WES TRNT1 1 LOVD


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