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Variant (rsID / SNP)

rs142482745

FIG4

rs142482745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,110,787. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FIG4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:110110787
Cytoband
6q21
HGVS
NM_014845.6(FIG4):c.2097-10C>G
Allele change
Silent

Associated conditions / phenotypes

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