Variant (rsID / SNP)

rs3810206

rs3810206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GTPBP3. Location: chromosome 19, position 17,450,016. 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: 19:17450016
Cytoband: 19p13.11
HGVS: NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala)
Allele change: Missense_V272A

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 23

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.