Variant (rsID / SNP)
rs139357821
rs139357821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGD4. Location: chromosome 12, position 32,735,056. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FGD4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:32735056
- Cytoband
- 12p11.21
- HGVS
- NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
- Allele change
- Synonymous_A170A
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.