Genomic variant #0000001510

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.57105821delC
DNA change (hg38) g.59028460delC
Published as -
ISCN -
DB-ID TRIM37_000014
Variant remarks Finnish minor mutation (FINminor), 2 Finnish MUL patients (het)
Reference PubMed: Avela et al. 2000
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/316 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 +/+ 19 c.2212delG - r.2212delg p.Glu738Asnfs*31