Variant (rsID / SNP)

rs28935470

rs28935470 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.760G>A (p.Glu254Lys)
Allele change: Missense_E254K

Associated conditions / phenotypes

Oto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II|Melnick-Needles 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.