Genomic variant #0000001500

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.57141767C>T
DNA change (hg38) g.59064406C>T
Published as AB020705: c.855-1G>A
ISCN -
DB-ID TRIM37_000004
Variant remarks 3 Turkish sibs (hom) with MUL
Reference PubMed: Jagiello et al. 2003
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
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 +/+ 9i c.810-1G>A - r.810_817delugaauuag p.Glu271Alafs*64