Variant (rsID / SNP)

rs387906317

rs387906317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC45A2. Location: chromosome 5, position 33,954,512. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC45A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:33954512
Cytoband: 5p13.2
HGVS: NM_016180.5(SLC45A2):c.986del (p.Thr329fs)

Associated conditions / phenotypes

Oculocutaneous albinism type 4

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.