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Variant (rsID / SNP)

rs121908288

FIG4

rs121908288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,056,402. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FIG4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:110056402
Cytoband
6q21
HGVS
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
Allele change
Nonsense_R183X

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4J|Charcot-Marie-Tooth disease type 4|Amyotrophic lateral sclerosis

Public references

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