Genomic variant #0000016112

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.57093109_57093110insTA
DNA change (hg38) -
Published as -
ISCN -
DB-ID TRIM37_000023
Variant remarks 1 Turkish MUL family (hom)
Reference Kettunen, Okur, Lehesjoki unpublished data
ClinVar ID -
dbSNP ID rs312262700
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 +/+ 21 c.2438_2439insAT - r.(2438_2439insau) p.(Ile814*)