Variant (rsID / SNP)

rs35264875

rs35264875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPCN2. Location: chromosome 11, position 68,846,399. Clinical significance in the table: association.

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Reference-table entries

TPCN2Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 11:68846399
Cytoband: 11q13.3
HGVS: NM_139075.4(TPCN2):c.1450A>T (p.Met484Leu)
Allele change: Missense_M484L

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 10

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.