Variant (rsID / SNP)

rs200064797

rs200064797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,842,588. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FREM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:14842588
Cytoband: 9p22.3
HGVS: NM_001379081.2(FREM1):c.1464C>T (p.Ser488=)
Allele change: Synonymous_S488S

Associated conditions / phenotypes

Oculotrichoanal syndrome

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.