Variant (rsID / SNP)

rs5977625

rs5977625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRMD7. Clinical significance in the table: Benign.

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Reference-table entries

FRMD7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu)
Allele change: Missense_S266L

Associated conditions / phenotypes

Nystagmus 1, congenital, X-linked

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.