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Variant (rsID / SNP)

rs143873938

FLNA

rs143873938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FLNABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Cytoband
Xq28
HGVS
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
Allele change
Missense_V528M

Associated conditions / phenotypes

Heterotopia, periventricular, X-linked dominant|Cardiovascular phenotype|History of neurodevelopmental disorder|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II

Public references

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