Variant (rsID / SNP)

rs148757217

rs148757217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT83. Location: chromosome 12, position 52,709,122. 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: 12:52709122
Cytoband: 12q13.13
HGVS: NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser)
Allele change: Missense_C423S

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.