Genomic variant #0000001506

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.57126723dup
DNA change (hg38) g.59049362dup
Published as c.1346_1347insA
ISCN -
DB-ID TRIM37_000010
Variant remarks 1 American MUL patient (hom)
Reference PubMed: Avela et al. 2000
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/190 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 +/+ 15 c.1346dup - r.1346dupa p.Ser450Valfs*9