Variant (rsID / SNP)

rs146366728

rs146366728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HERC2. Location: chromosome 15, position 28,443,903. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HERC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:28443903
Cytoband: 15q13.1
HGVS: NM_004667.6(HERC2):c.7729G>A (p.Val2577Ile)
Allele change: Missense_V2577I

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 1

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.