Genomic variant #0000016106

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_57148184)_(57148308_?)del
DNA change (hg38) g.59070823_59070947del
Published as -
ISCN -
DB-ID TRIM37_000017
Variant remarks 1 British MUL patient (hom). Exon 9 deletion.
Reference Kettunen, Hurst, Lehesjoki unpublished data
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_001005207.2 +/+ 9 c.685-?_809+?del - r.(685_809) p.(Leu229*)
TRIM37 NM_015294.3 +/+ 9 c.685-?_809+?del - r.(685_809del) p.(Leu229*)