Genomic variant #0000016954

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.57165706A>G
DNA change (hg38) g.59088345A>G
Published as -
ISCN -
DB-ID TRIM37_000024
Variant remarks 1 Finnish MUL patient (com-het).
Reference PubMed: Kallijärvi et al. 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Kaisa Kettunen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TRIM37 NM_015294.3 +/+ 4 c.227T>C - r.(227u>c) p.(Leu76Pro)