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Variant (rsID / SNP)

rs61753359

FGD4

rs61753359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGD4. Location: chromosome 12, position 32,793,315. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FGD4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:32793315
Cytoband
12p11.21
HGVS
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
Allele change
Missense_V802M

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4H

Public references

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