Variant (rsID / SNP)

rs121912619

rs121912619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC45A2. Location: chromosome 5, position 33,951,733. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC45A2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:33951733
Cytoband: 5p13.2
HGVS: NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)
Allele change: Missense_L361P

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.