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Variant (rsID / SNP)

rs137853312

FLNA

rs137853312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FLNAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Cytoband
Xq28
HGVS
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)
Allele change
Missense_S1186L

Associated conditions / phenotypes

Frontometaphyseal dysplasia 1|Oto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II|Melnick-Needles syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.