Variant (rsID / SNP)

rs9532292

rs9532292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,433,606. 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: 13:39433606
Cytoband: 13q13.3
HGVS: NM_207361.6(FREM2):c.7398A>G (p.Thr2466=)
Allele change: Synonymous_T2466T

Associated conditions / phenotypes

Fraser syndrome 2|Isolated cryptophthalmia

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.