Variant (rsID / SNP)

rs9536314

rs9536314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KL. Location: chromosome 13, position 33,628,138. Clinical significance in the table: Benign.

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Reference-table entries

KLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:33628138
Cytoband: 13q13.1
HGVS: NM_004795.4(KL):c.1054T>G (p.Phe352Val)
Allele change: Missense_F352V

Associated conditions / phenotypes

Tumoral calcinosis, hyperphosphatemic, familial, 3

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.