Variant (rsID / SNP)

rs200673062

rs200673062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Likely benign.

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Reference-table entries

FLNALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)
Allele change: Missense_V591I

Associated conditions / phenotypes

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

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.