Genomic variant #0000181533

Individual ID 00112383
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48509033delC
DNA change (hg38) -
Published as -
ISCN -
DB-ID TREX1_000044
Variant remarks Variant originally reported as "c.*979delC" and "p. 3'UTR
Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Lee-Kirsch 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Boukje de Vries
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TREX1 NM_016381.4 +/? 1 c.*34delC r.(=) p.(=)
TREX1 NM_033629.3 +/? 2 c.979delC r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112841 DNA SEQ - - TREX1 1 Boukje de Vries