Genomic variant #0000016108

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.57128656delT
DNA change (hg38) g.59051295delT
Published as -
ISCN -
DB-ID TRIM37_000019
Variant remarks 1 German MUL patient (hom)
Reference PubMed: Kumpf et al. 2013
ClinVar ID -
dbSNP ID rs312262704
Origin SUMMARY record
Segregation yes
Frequency 0/95 CEPH
Re-site vallijaa
VIP 0
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 +/+ 14 c.1233delA - r.(1233dela) p.(Lys411Asnfs*23)
TRIM37 NM_015294.3 +/+ 14 c.1233delA - r.(1233dela) p.(Lys411Asnfs*23)