Genomic variant #0000001508

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.57109310_57109311delTC
DNA change (hg38) g.59031949_59031950delTC
Published as -
ISCN -
DB-ID TRIM37_000012
Variant remarks 1 Turkish MUL patient (hom)
Reference PubMed: Do─čanc et al. 2007
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/100 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 +/+ 18 c.1894_1895delGA - r.(1894_1895delga) p.(Glu632Lysfs*25)