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Variant (rsID / SNP)

rs371152353

SLC45A2

rs371152353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC45A2. Location: chromosome 5, position 33,947,489. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC45A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:33947489
Cytoband
5p13.2
HGVS
NM_016180.5(SLC45A2):c.1157-10C>T
Allele change
Silent

Associated conditions / phenotypes

Oculocutaneous albinism type 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.