Variant (rsID / SNP)

rs2857671

rs2857671 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT83. Location: chromosome 12, position 52,708,420. Clinical significance in the table: Benign.

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Reference-table entries

KRT83Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:52708420
Cytoband: 12q13.13
HGVS: NM_002282.3(KRT83):c.1477C>T (p.His493Tyr)
Allele change: Missense_H493Y

Associated conditions / phenotypes

Beaded hair

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.