Variant (rsID / SNP)

rs147904037

rs147904037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A19. Location: chromosome 17, position 73,273,458. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC25A19Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:73273458
Cytoband: 17q25.1
HGVS: NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
Allele change: Synonymous_E250E

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.