Variant #0000466714 (NC_000007.13:g.128694823A>G, NM_012470.3:c.2T>C (TNPO3))

Individual ID 00221032
Chromosome 7
Allele Parent #1
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.128694823A>G
DNA change (hg38) g.129054769A>G
Published as M1T
ISCN -
DB-ID TNPO3_000054
Variant remarks -
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Madhuri Hegde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-02-06 14:15:12 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNPO3 NM_012470.3 ?/. 1 c.2T>C r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000222103 DNA SEQ;SEQ-NG - targeted gene panel - 4 Madhuri Hegde


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