Variant (rsID / SNP)

rs370490152

rs370490152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FLNALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter)
Allele change: Missense_E349K

Associated conditions / phenotypes

Heterotopia, periventricular, X-linked dominant

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.