Variant (rsID / SNP)

rs398123615

rs398123615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FLNAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)
Allele change: Synonymous_G1049G

Associated conditions / phenotypes

Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Frontometaphyseal dysplasia|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.