Variant (rsID / SNP)

rs3745193

rs3745193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GTPBP3. Location: chromosome 19, position 17,451,981. Clinical significance in the table: Benign.

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Reference-table entries

GTPBP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:17451981
Cytoband: 19p13.11
HGVS: NM_032620.4(GTPBP3):c.1103G>A (p.Arg368His)
Allele change: Missense_R390H

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.