Variant (rsID / SNP)

rs145649029

rs145649029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT16. Location: chromosome 17, position 39,767,367. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KRT16Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:39767367
Cytoband: 17q21.2
HGVS: NM_005557.4(KRT16):c.887T>C (p.Met296Thr)
Allele change: Missense_M296T

Associated conditions / phenotypes

Inborn genetic diseases

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.