Genomic variant #0000250379

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.57126712A>T
DNA change (hg38) -
Published as TRIM37:c.1357T>A (L453M)
ISCN -
DB-ID TRIM37_000028
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner VKGL-NL_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TRIM37 NM_001005207.2 -?/. - c.1357T>A likely benign r.(?) p.(Leu453Met)
TRIM37 NM_015294.3 -?/. - c.1357T>A likely benign r.(?) p.(Leu453Met)