Variant (rsID / SNP)

rs2634041

rs2634041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT2. Location: chromosome 12, position 53,045,626. Clinical significance in the table: Benign.

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Reference-table entries

KRT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:53045626
Cytoband: 12q13.13
HGVS: NM_000423.3(KRT2):c.301A>G (p.Ser101Gly)
Allele change: Missense_S101G

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.