Variant (rsID / SNP)

rs638043

rs638043 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT2. Location: chromosome 12, position 53,044,267. 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: 12:53044267
Cytoband: 12q13.13
HGVS: NM_000423.3(KRT2):c.656G>A (p.Gly219Asp)
Allele change: Missense_G219D

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.