Variant (rsID / SNP)

rs116653247

rs116653247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,265,460. Clinical significance in the table: Benign.

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Reference-table entries

FREM2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:39265460
Cytoband: 13q13.3
HGVS: NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile)
Allele change: Missense_L1327I

Associated conditions / phenotypes

Fraser syndrome 2

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.