Variant (rsID / SNP)

rs147648476

rs147648476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A46. Location: chromosome 5, position 110,074,968. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC25A46Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:110074968
Cytoband: 5q22.1
HGVS: NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)
Allele change: Silent

Associated conditions / phenotypes

Neuropathy, hereditary motor and sensory, type 6B

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.