Genomic variant #0000001505

Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.57119466_57128068del
DNA change (hg38) g.59042105_59050707del
Published as -
ISCN -
DB-ID TRIM37_000009
Variant remarks 1 Sisilian MUL patient (hom)
Reference PubMed: Hämäläinen et al. 2004
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/85 CEPH
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 +/+ 14i_16i c.1314+507_1668-207del - r.(1315_1667del) p.(Arg439Valfs*5)