Variant (rsID / SNP)

rs200836471

rs200836471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FLNAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)
Allele change: Missense_R2635C

Associated conditions / phenotypes

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

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.