Variant (rsID / SNP)

rs137853310

rs137853310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)
Allele change: Nonsense_Q182X

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.