Variant (rsID / SNP)

rs202243677

rs202243677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT2. Location: chromosome 12, position 53,045,391. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KRT2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:53045391
Cytoband: 12q13.13
HGVS: NM_000423.3(KRT2):c.536G>A (p.Arg179His)
Allele change: Missense_R179H

Associated conditions / phenotypes

Ichthyosis bullosa of Siemens

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.