Genomic variant #0000016109

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.57109294_57109295dup
DNA change (hg38) g.59031933_59031934dupTA
Published as -
ISCN -
DB-ID TRIM37_000020
Variant remarks 1 Swiss MUL patient (com-het)
Reference Hämäläinen, Bartholdi, Lehesjoki, unpublished data
ClinVar ID -
dbSNP ID rs312262703
Origin SUMMARY record
Segregation yes
Frequency 1/95 CEPH (het)
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 +/+ 18 c.1910_1911dupTA - r.(1910_1911dupua) p.(Gln638Tyrfs*36)