Genomic variant #0000313506

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.57093035C>T
DNA change (hg38) -
Published as TRIM37:c.2512G>A (V838I)
ISCN -
DB-ID TRIM37_000025
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) 0.01192 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.2512G>A benign r.(?) p.(Val838Ile)
TRIM37 NM_015294.3 -/. - c.2512G>A benign r.(?) p.(Val838Ile)