Variant (rsID / SNP)

rs148372053

rs148372053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A19. Location: chromosome 17, position 73,269,698. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC25A19Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:73269698
Cytoband: 17q25.1
HGVS: NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
Allele change: Silent

Associated conditions / phenotypes

Amish lethal microcephaly

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.