Genomic variant #0000001501

Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.57141734_57141738delAAAGT
DNA change (hg38) g.59064373_59064377delAAAGT
Published as -
ISCN -
DB-ID TRIM37_000005
Variant remarks 1 Czech MUL patient (hom)
Reference PubMed: Avela et al. 2000
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/200 CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TRIM37 NM_015294.3 +/+ 10 c.838_842delACTTT - r.838_842delacuuu p.Thr280Cysfs*56