Variant (rsID / SNP)

rs104894424

rs104894424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A15. Location: chromosome 13, position 41,381,515. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC25A15Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:41381515
Cytoband: 13q14.11
HGVS: NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
Allele change: Missense_E180K

Associated conditions / phenotypes

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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.