Variant (rsID / SNP)

rs147273930

rs147273930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIOBP. Location: chromosome 22, position 38,147,834. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRIOBPLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:38147834
Cytoband: 22q13.1
HGVS: NM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala)
Allele change: Missense_E1793A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.