Genomic variant #0000016103

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.57181696delC
DNA change (hg38) g.59104335delC
Published as -
ISCN -
DB-ID TRIM37_000015
Variant remarks 1 French MUL patient (hom)
Reference Hämäläinen, Sonnet, Lehesjoki, unpublished data
ClinVar ID -
dbSNP ID rs312262706
Origin SUMMARY record
Segregation yes
Frequency 0/95 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_001005207.2 +/+ 2 c.81delG - r.(81delg) p.(Cys28Valfs*17)
TRIM37 NM_015294.3 +/+ 2 c.81delG - r.(81delg) p.(Cys28Valfs*17)