Variant (rsID / SNP)

rs137853318

rs137853318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe)
Allele change: Missense_C210F

Associated conditions / phenotypes

Oto-palato-digital syndrome, type II

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.