Variant (rsID / SNP)

rs16891982

rs16891982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC45A2. Location: chromosome 5, position 33,951,693. Clinical significance in the table: Benign.

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Reference-table entries

SLC45A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:33951693
Cytoband: 5p13.2
HGVS: NM_016180.5(SLC45A2):c.1122= (p.Leu374=)
Allele change: Missense_L374F

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 5|Malignant melanoma of skin

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.